Autonomic nervous system dysregulation: Breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome
Pediatrics; patterns; disorder; dysfunction; hyperventilation; explanation; long qt syndrome; mecp2; mutations; sudden-death; breathing difficulties; Rett syndrome; trajectory; characteristics; irregular breathing; increased breathing frequency; increased mean airflow increased hear rate
This study characterizes cardiorespiratory dysregulation in young girls with MECP2 mutation-confirmed Rett syndrome (RS). Respiratory inductance plethysmography of chest/abdomen and ECG was obtained during daytime wakefulness in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched controls (ages 2-7 y). An in-home breath-to-breath and beat-to-beat characterization was conducted and revealed that breathing was more irregular, with an increased breathing frequency, mean airflow. and heart rate in RS versus controls. There was a decreased correlation between normal breathing and heart rate variability, and an exaggerated increase in heart rate response to breathholds in RS versus controls. We conclude that girls with RS have cardiorespiratory dysregulation during breathholds as well as during "normal" breaths and during breaths before and subsequent to breathholds. This dysregulation may offer insight into the mechanisms that render girls With RS more vulnerable to sudden death.
Weese-Mayer D E; Lieske S P; Boothby C M; Kenny A S; Bennett H L; Silvestri J M; Ramirez J M
Pediatric Research
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1203/01.pdr.0000238302.84552.d0" target="_blank" rel="noreferrer noopener">10.1203/01.pdr.0000238302.84552.d0</a>
Autonomic Dysregulation in Young Girls With Rett Syndrome During Nighttime in-Home Recordings
Pediatrics; patterns; autonomic dysregulation; cardiorespiratory dysregulation; disorder; disturbances; dysfunction; hyperventilation; mecp2 mutations; mice; nervous-system; Respiratory System; breathing difficulties; Rett syndrome; trajectory; characteristics; irregular breathing; increased breathing frequency
This study was designed to specifically characterize the autonomic phenotype of cardiorespiratory dysregulation during the nighttime in young girls with MECP2 mutation-confirmed Rett Syndrome (RS), studied in their home environment. Computerized breath-to-breath and beat-to-beat characterization of at-home continuously recorded respiratory inductance plethysmography of chest/abdomen and ECG (VivoMetrics, Inc.) was obtained during overnight recordings in 47 girls with MECP2 mutation-confirmed RS and 47 age-, gender-, and ethnicity-matched screened controls (ages 2-7 years). We determined that although the breathing and heart rate appear more regular during the night compared to the day, young girls with RS demonstrate apparent nocturnal irregularities. Comparing daytime versus nighttime, breathing was more irregular, with an increased breathing frequency (and irregularity), mean amplitude of respiratory inductance plethysmography sum (AMP)/T-I, and heart rate and decreased AMP in girls with RS. Comparing girls with RS versus controls during nighttime recording, breathing was more irregular, with an increased breathing frequency (and irregularity), mean AMP/T-I, and heart rate. An increased uncoupling between measures of breathing and heart rate control indicates malregulation in the autonomic nervous system, and is apparent during the day as well as the night. This uncoupling may represent a mechanism that renders the girls with RS more vulnerable to sudden death. Pediatr Pulmonol. 2008;43:1045-1060. (C) 2008 Wiley-Liss, Inc.
Weese-Mayer D E; Lieske S P; Boothby C M; Kenny A S; Bennett H L; Ramirez J M
Pediatric Pulmonology
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ppul.20866" target="_blank" rel="noreferrer noopener">10.1002/ppul.20866</a>
Breathing abnormalities in sleep in achondroplasia
breathing difficulties; achondroplasia; trajectory; characteristics; upper airways obstruction
Overnight sleep studies were performed in 20 subjects with achondroplasia to document further the respiratory abnormalities present in this group. Somatosensory evoked potentials (SEPs) were recorded in 19 of the subjects to screen for the presence of brainstem abnormalities, which are one of the potential aetiological mechanisms. Fifteen children aged 1 to 14 years, and five young adults, aged 20 to 31 years were included. All had upper airway obstruction and 15 (75%) had a pathological apnoea index (greater than five per hour). Other sleep associated respiratory abnormalities, including partial obstruction, central apnoea, and abnormal electromyographic activity of accessory muscles of respiration, also showed a high prevalence. SEPs were abnormal in eight (42%), but there was no correlation between abnormal SEPs and apnoea during sleep, either qualitatively or quantitatively. A high prevalence of both sleep related respiratory abnormalities and abnormal SEPs in young subjects with achondroplasia was demonstrated. However, the sleep related respiratory abnormalities do not always result in significant blood gas disturbances or correlate with abnormal SEPs in this group.
Waters K A; Everett F; Sillence D; Fagan E; Sullivan C E
Archives in Disease in Childhood
1993
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<a href="http://doi.org/10.1136/adc.69.2.191" target="_blank" rel="noreferrer noopener">10.1136/adc.69.2.191</a>
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials
Achondroplasia/co [Complications]; Adolescent; Adult Child; Child; Preschool; Evoked Potentials; Female; Humans; Infant; Male; Middle Aged; Respiration; Sleep Apnea Syndromes/et [Etiology]; Sleep Apnea Syndromes/th [Therapy]; Tonsillectomy; Weight Loss; breathing difficulties; achondroplasia; surgical interventions; physical interventions; adenotonsillectomy; losing weight; weight loss; CPAP; respiratory disturbance index
The occurrence of obstructive sleep apnea (OSA) is achondroplasia has been linked to brain stem compression. Overnight sleep studies (11 subjects) and somatosensory-evoked potentials (SEP's, 10 subjects) were recorded before and after conventional treatment of OSA in achondroplasia. The two groups were derived from 30 subjects who underwent diagnostic sleep studies and SEPs, including 15 females and 15 males with a median age 6.6 years (range 1.0-47.6) at the time of the first study. In 30 initial studies there was no correlation between severity of OSA and abnormalities on SEP evaluation. Treatment of 17 subjects included adenotonsillectomy (n = 3), weight loss (n = 1), and nasal-mask continuous positive airway pressure (CPAP) (n = 13). Sleep studies in 11 subjects after a delay of 8.8 +/- 2.8 months showed a reduction in respiratory disturbance index (RDI) from 38.4 +/- 6.9 to 6.5 +/- 1.8 events hr(-1) (p < 0.001) and movements/arousals fell from 10.4 +/- 2.2 to 4.8 +/- 0.2 hr(-1) (p < 0.04). Obstructive events were reduced from 33.7 +/- 6.9 to 2.4 +/- 1.0 hr(-1) (p < 0.001). Improvement of respiratory indices was associated with an increased proportion of slow-wave sleep from 25.2 +/- 4.0% to 32.3 +/- 2.4% (p = 0.01), and decrease in stage 1-2 sleep from 59.3 +/- 5.8% to 46.6 +/- 1.9% (p = 0.03). There was no increase in the percentage of REM sleep (15.2 to 21.2%). Repeat SEP studies in 10 subjects, after clinically effective treatment of OSA, showed improvement of SEP score of at least 1 grade, in 5 of 7 (71%) with initially abnormal values. We conclude that treatment of relieve upper airway obstruction improves OSA in achondroplasia, accompanied by changes in sleep structure and, in some cases, improved studies of neurological function.
Waters K A; Everett F; Sillence D O; Fagan E R; Sullivan C E
American Journal of Medical Genetics
1995
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/ajmg.1320590412" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320590412</a>
The feasibility and validity of forced spirometry in ataxia telangiectasia
Adolescent; Ataxia Telangiectasia/di [Diagnosis]; Ataxia Telangiectasia/pp [Physiopathology]; Case-Control Studies; Child; Preschool; Feasibility Studies; Female; Humans; Male; Reproducibility of Results; Spirometry; Young Adult; breathing difficulties; Ataxia Telangiectasia; trajectory; characteristics; lung deterioration
OBJECTIVES: To explore the feasibility and validity of forced spirometry in patients with ataxia telangiectasia (A-T). STUDY DESIGN: Twenty-eight patients (aged 3.7-19.3 years) performed spirometry on 47 occasions. Parameters studied were technical quality and relation to: predicted values, pulmonary illness. RESULTS: Start of test criteria for correct expiratory effort was significantly prolonged (183 +/- 115 ms; P < 0.001). The rise-time to peak flow in children free of respiratory symptoms (Group-FRS; n = 8) increased by 16.2 +/- 12.5 ms/year above recommended and in children having recurrent infections (n = 8) 30.4 +/- 16.1 ms/year, P < 0.01. Expiration-time was significantly shorter than requested (1.21 +/- 0.47 sec) and was ended abruptly in 57% of the patients. FEV(1) could not be established by 8/20 patients. The intra-subject reproducibility met criteria (4.4 +/- 2.7%, 5.2 +/- 2.8%, 2.9 +/- 3.2%, 6.3 +/- 5.3%, for FVC, FEV(0.5), PEF, FEF(25-75), respectively). Group-FRS showed yearly deterioration in FVC of 2.2%, while patients with hyper-reactive airways (Group-HRA; n =12) had a deterioration rate of 3.6%/year. FEV(0.5) deterioration rate was similar in both groups (2.2 and 2.0, respectively), but baseline values in Group-HRA were significantly lower than those of Group-FRS (P = 0.029) in similar young ages, indicating airway obstruction at early ages in Group-HRA. FEV(0.5) values deterioration also correlated with body mass index (P< 0.017). CONCLUSION: Forced spirometry in A-T patients is reproducible and has a distinct pattern, although curves do not meet other recommendations for acceptable criteria. The study insinuates that a rapid deterioration in lung function occurs in A-T patients with recurrent respiratory infection, suggesting that early intervention may prevent further deterioration or improve their lung function. Further studies are needed to confirm our results.Copyright © 2010 Wiley-Liss, Inc.
Vilozni D; Berkun Y; Levi Y; Weiss B; Jacobson J M; Efrati O
Pediatric Pulmonology
2010
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<a href="http://doi.org/10.1002/ppul.21291" target="_blank" rel="noreferrer noopener">10.1002/ppul.21291</a>
Sleep-disordered breathing and its management in children with achondroplasia
retrospective study; school child; preschool child; human; child; clinical article; surgery; prevalence; apnea hypopnea index; achondroplasia; adenotonsillectomy; neurosurgery; polysomnography; sleep disordered breathing; apnea monitoring; bone dysplasia; upper respiratory tract; breathing difficulties; surgical interventions; physical interventions; ENT surgery; CPAP; BiPAP; cervical decompression; obstructive sleep apnea
Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 +/- 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA). Thirteen children had an obstructive apnea-hypopnea index (OAHI) < 5/hr, four had an OAHI between 5 and 10/hr, and seven had an OAHI > 10/hr. Ten of the 15 children who had previous upper airway surgery still had an abnormal P(S)G. All the patients with an AHI > 10/hr were under 7 years of age and none had a prior tonsillectomy. The children who underwent adeno-tonsillectomy, coupled in most cases with turbinectomy, were significantly older (mean age 7.5 +/- 3.5 vs. 3.5 +/- 1.7 years old, P = 0.015) and had significantly better P(S)G results than those who underwent only adeno-turbinectomy. No correlation was observed between the mean AHI value at the baseline P(S)G and the type of academic course (standard, supported or specialized). In conclusion, OSA is common in children with achondroplasia. The observation of a reduced prevalence of OSA after (adeno-)tonsillectomy is in favor of this type of surgery when possible. Copyright © 2017 Wiley Periodicals, Inc.
Tenconi R; Khirani S; Amaddeo A; Michot C; Baujat G; Couloigner V; De Sanctis L; James S; Zerah M; Cormier-Daire V; Fauroux B
American Journal of Medical Genetics Part A
2017
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<a href="http://doi.org/10.1002/ajmg.a.38130" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.38130</a>
Comparison of treatment modalities in syndromic children with Obstructive Sleep Apnea-A randomized cohort study
quality of life; major clinical study; priority journal; follow up; randomized controlled trial; mucopolysaccharidosis; outcome assessment; clinical effectiveness; human; article; child; female; male; controlled study; adenotonsillectomy; apnea hypopnea index; Continuous Positive Airway Pressure; CPAP device; Down syndrome; Epworth sleepiness scale; ess-c; Mucopolysaccharidoses; osa-18; Pediatric obstructive sleep apnea; positive end expiratory pressure; radiofrequency ablation device; sleep disordered breathing/su [Surgery]; sleep disordered breathing/th [Therapy]; treatment outcome; breathing difficulties; MPSI; MPSII; MPSIII; MPSIIIA; MPSIIIB; MPSVI; MPSVII; surgical interventions; physical interventions; adenotonsillectomy
Introduction: Obstructive Sleep Apnea (OSA) is a common medical problem in adults that is becoming increasingly recognized in children. It occurs in the pediatric age group, from newborns to teens. More recently, many specialists have estimated OSA prevalence to be between 5 and 6%. However, in syndromic children, the prevalence of OSA can be from 50 to 100%, having a significant effect on their Quality-of-Life. As they are a challenging population for management, it is essential to evaluate them thoroughly before planning appropriate intervention. Objective: To compare the efficacy of Adenotonsillectomy (T&A) and Continuous Positive Airway Pressure (CPAP) in syndromic children [Down syndrome (DS) and Mucopolysaccharidoses (MPS)] with Obstructive Sleep Apnea (OSA). Materials and methods: In a prospective, randomized, cohort comparative study, 124 syndromic children (DS and MPS) aged between 6 and 12 years were recruited from a private MPS support group and the Down Syndrome Society, Chennai. A standard assessment was performed on all children who entered the study including a full overnight Polysomnogram (PSG), Epworth Sleepiness Scale-Children (ESS-C) and Quality-of-Life (QOL) tool OSA-18. The children with positive PSG who consented for the study (n= 80) were randomly distributed to two groups, T&A group & CPAP group. The children were followed up with repeat PSG, clinical evaluation, ESS-C and Quality-of-Life (QOL) tool OSA-18 for a period of 1 year. Observation and results: Follow-up was available for 73 syndromic children. Both the groups, T&A group and CPAP group, showed statistically significant (p<. 0.05) improvement in Apnea-Hypoapnea Index (AHI), ESS-C, QOL from the intervention. In our study, T&A showed equal outcome compared to CPAP. The contrasting feature between the two groups was that CPAP use gave immediate sustained improvement while T&A gave gradual progressive improvement of symptoms over a period of 1 year. Conclusion: On average, T&A gives equal outcomes as CPAP and it can be suggested as a first-line treatment in this group of syndromic children. © 2014.
Sudarsan S S; Paramasivan V K; Arumugam S V; Murali S; Kameswaran M
International Journal of Pediatric Otorhinolaryngology
2014
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<a href="http://doi.org/10.1016/j.ijporl.2014.06.027" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2014.06.027</a>
Characterization of sleep disturbance in Cornelia de Lange Syndrome
Cornelia de Lange Syndrome; Sleep disordered breathing; Sleepiness; Snoring; breathing difficulties; sleep disturbance; De Lange syndrome; trajectory; characteristics; sleep disordered breathing
Prior studies have suggested that sleep disturbance is common in Cornelia de Lange Syndrome (CdLS); however, the nature of this sleep disturbance has not been well characterized. In this study, we evaluate the prevalence of sleep disordered breathing (SDB) and sleepiness in children and young adults with CdLS. Caregivers of 22 patients with CdLS completed 3 validated Pediatric Sleep Questionnaires: the Pediatric Sleep Questionnaire (PSQ), Pediatric Daytime Sleepiness Scale (PDSS), and OSA18. Both measures of SDB (OSA18 and PSQ) suggest that 35–36% of these patients may have moderate to severe SDB. This is much higher than the general population estimates of 1–4% for SDB with a relative risk of 5.2 (95% CI: 2.8–9.9). Correlation between the OSA18 and PSQ was significant (R=0.67; 95% CI: 0.33–0.85, p=0.0007). Confirming these results among patients with a high probability of SDB (based upon OSA18 scores ≥60), there was a non-significant trend toward increased sleepiness with a relative risk of 2.0 (95% CI: 0.73–5.7, p=0.31) on the PDSS and 2.9 (95% CI: 0.93–9.1, p=0.08) on the PSQ sleepiness scale. In those patients with low probability of SDB (OSA18<60), sleepiness was still seen in 13–29% of patients. Overall 23–35% of participants were characterized as sleepy. Sleep disordered breathing and sleepiness appear to be common in CdLS although small sample sizes limit further conclusions. Additional studies with larger sample size and confirmation with polysomnography are needed to further explore the nature and extent of sleep disturbance in this population.
Stavinoha Rose C; Kline A D; Levy H P; Kimball A; Mettel T L; Ishman S L
International Journal of Pediatric Otorhinolaryngology
2011
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<a href="http://doi.org/10.1016/j.ijporl.2010.11.003" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2010.11.003</a>
Respiratory complications of mucopolysaccharide storage disorders
Male; Child; Humans; Adult; Adolescent; Female; Child Preschool; Infant; Retrospective Studies; Sleep Apnea Syndromes/et [Etiology]; Mucopolysaccharidoses/co [Complications]; Respiratory Tract Diseases/et [Etiology]; Airway Obstruction/et [Etiology]; Anesthesia General/ae [Adverse Effects]; Cardiovascular Diseases/et [Etiology]; Intubation Intratracheal/ae [Adverse Effects]; Lung Diseases/et [Etiology]; Lung Diseases/pp [Physiopathology]; Mucopolysaccharidoses/mo [Mortality]; Mucopolysaccharidoses/pp [Physiopathology]; Respiratory Tract Diseases/pp [Physiopathology]; Respiratory Tract Diseases/ra [Radiography]; Spinal Diseases/et [Etiology]; Spinal Diseases/ra [Radiography]; breathing difficulties; MLII; MLIII; MPSI; MPSII; MPSVI; surgical interventions; pharmacologic interventions; tonsillectomy; adenoidectomy; tracheostomy; diuretics; theophylline; digoxin; beta adrenergic blockers; calcium antagonists; respiratory problems
Twenty-one patients with the diagnosis of mucopolysaccharidosis or mucolipidosis and a history of respiratory complaints or thorough respiratory evaluation were studied retrospectively. Anatomic factors affecting respiratory status included: (i) upper airway narrowing by hypertrophied tongue, tonsils, adenoids, and mucous membranes; (ii) lower airway narrowing by glycosaminoglycan deposition within the tracheobronchial mucosa; (iii) decreased thoracic dimensions due to scoliosis and thoracic hyperkyphosis; and (iv) decreased abdominal dimensions due to lumbar hyperlordosis, gibbus formation and hepatosplenomegaly. Cardiac and neurologic involvement, while present, did not play primary roles in the development of respiratory disease. The functional consequences of these findings included increased risk of developing: (i) respiratory tract infections; (ii) airway compromise during or after anesthesia or sedation; (iii) dyspnea on exertion; (iv) obstructive lung disease; (v) obstructive sleep apnea; and (vi) cor pulmonale. A management approach is presented which can reduce the morbidity and mortality experienced by these patients.
Semenza G L; Pyeritz R E
Medicine
1988
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<a href="http://doi.org/10.1097/00005792-198807000-00002" target="_blank" rel="noreferrer noopener">10.1097/00005792-198807000-00002</a>
Polysomnographic recordings of respiratory disturbances in Rett syndrome
adolescent; respiratory tract disease; priority journal; school child; human; female; case report; conference paper; Disorder of respiratory control; Hyperventilation; Polygraphic recording; polysomnography; Rett syndrome; Rett syndrome/di [Diagnosis]; breathing difficulties; trajectory; characteristics; hypocapnia; apnea
Polygraphic recordings in the awake state and during sleep were performed in two girls with Rett syndrome, aged 9 y and 17 y, in order to characterize the clinically manifest breathing disorder of these patients. Primary hyperventilation was detected, leading to hypocapnia and compensatory apnoea. Hypoxaemia occurred as the consequence of prolonged apnoea. In the younger patient these disturbances were observed only in the awake state, whereas in the older patient they were found in the awake state and during sleep.
Schluter B; Aguigah G; Buschatz D; Trowitzsch E; Aksu F
Journal of Sleep Research
1995
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<a href="http://doi.org/10.1111/j.1365-2869.1995.tb00216.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2869.1995.tb00216.x</a>
Disturbances in cardiorespiratory function during day and night in Rett syndrome
breathing difficulties; Rett syndrome; trajectory; characteristics; apnea; shallow breathing; hypoventilation
Rett syndrome causes severe autonomic dysregulation, probably due to brainstem dysfunction. Because the brainstem plays a decisive role in cardiorespiratory regulation during sleep, we investigated cardiorespiratory function in 12 girls with Rett syndrome, day and night, for 1 week in their home environment. Heart rate and breathing were recorded via standard three-lead electrocardiogram. Depth and frequency of respiratory movements were measured via changes in impedance. All children were scored clinically, and the association with cardiorespiratory function was examined. The total recording time for all patients was 1114 hours (535 during wakefulness; 579 during sleep), and 77 +/- 22 hours (median +/- standard error of the mean) per individual. All subjects manifested apnea, shallow breathing, or hypoventilation, when awake and during sleep. A majority had bradycardia or tachycardia. The frequencies of respiratory and heart alarms were similar during wakefulness and sleep. Bradycardia events predominated during sleep. The only significant correlation between clinical score and cardiorespiratory regulation was found for muscular-skeletal function and breathing abnormalities during wakefulness. We conclude that Rett syndrome is characterized by disturbed breathing and heart rate during sleep. The severity of cardiorespiratory dysfunction exhibited marked intra- and interindividual differences.
Rohdin M; Fernell E; Eriksson M; Albåge M; Lagercrantz H; Katz-Salamon M
Pediatric Neurology
2007
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<a href="http://doi.org/10.1016/j.pediatrneurol.2007.06.009" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2007.06.009</a>
Dyspnea in Children with Life-Threatening and Life-Limiting Complex Chronic Conditions
children; Adolescents; palliative care; complex chronic conditions; adolescents; pediatrics; dyspnea; breathing difficulties; complex chronic conditions; pharmacological interventions; physical interventions
BACKGROUND: Dyspnea is one of the most frequent symptoms in children with complex chronic conditions (CCC) requiring palliative care. Although it is a subject of high importance, there has been little research on dyspnea in critically ill children. OBJECTIVE: The purpose of this systematic review was to investigate the prevalence and causes of dyspnea in children with CCC and to identify the current state of research on the measurements, treatments, and the evaluation of therapeutic interventions. METHODS: A systematic literature search for relevant literature from 1990 until the present was performed using the online database PubMed. Information about prevalence, pathophysiological mechanisms, measurement, and treatment of dyspnea was extracted from all 43 eligible publications. RESULTS: The prevalence ranged widely from 17% to 80%. Breathlessness was primarily attributed to a disease-specific pathophysiology. A multidimensional approach has not been reported. Assessment of dyspnea included eight tools using either subjective self- or proxy-ratings or objective measures. Evidence for the effectiveness of various treatment approaches was low. DISCUSSION: The prevalence rates for dyspnea could be generalized across all conditions and patient subgroups. The biopsychosocial-spiritual approach was not addressed by the studies. There is a lack of an adequate and validated measurement tool that can be applied to children of various ages and diagnoses, communication ability, and practicable across different settings. Most found treatment approaches lacked good evidence in children. CONCLUSION: Although the prevalence rate of dyspnea in pediatric palliative care is high, it has been poorly studied.
Pieper L; Zernikow B; Drake R; Frosch M; Printz M; Wager J
Journal of Palliative Medicine
2018
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<a href="http://doi.org/10.1089/jpm.2017.0240" target="_blank" rel="noreferrer noopener">10.1089/jpm.2017.0240</a>
Sleep disordered breathing in childhood-onset acid maltase deficiency
Male; Child; Humans; Adolescent; Female; Retrospective Studies; Polysomnography; Positive-Pressure Respiration; Respiratory Function Tests; Muscle Weakness; Blood Gas Analysis; Quality of Life; Respiration; Glycogen Storage Disease Type II/pp [Physiopathology]; Sleep Apnea Syndromes/pp [Physiopathology]; Sleep Apnea Syndromes/th [Therapy]; Muscle Strength; Respiration Disorders/pp [Physiopathology]; Respiration Disorders/th [Therapy]; Sleep/ph [Physiology]; breathing difficulties; glycogen storage disease type II; physical intervention; non-invasive positive pressure ventilation; sleep apnea
OBJECTIVES: To clarify the feature of sleep disordered breathing (SDB) associated with childhood-onset acid maltase deficiency (AMD): the progressive nature of SDB and the stage of AMD.;STUDY DESIGN: We retrospectively studied 4 patients with childhood-onset AMD by analyzing the results of neurological examinations for muscle wasting and muscle strength and the data on venous gas and from a pulmonary function test and nocturnal polysomnography (PSG).;RESULTS: Three out of the 4 patients showed muscular symptoms including myalgia, lordoscoliosis, muscle wasting and muscle weakness. They also complained of sleep-related symptoms such as tiredness in the morning and daytime sleepiness. All of them showed SDB by PSG, even in a patient in the earliest stage who exhibited no signs or symptoms of muscle weakness. In 3 patients, noninvasive intermittent positive pressure ventilation during sleep was introduced; and thereafter sleep-related symptoms were resolved and no lower respiratory infection reoccurred. Although their quality of life was improved, no improvement of respiratory function was shown by spirometry over a 2-year follow-up period.;CONCLUSIONS: SDB seems to be common in childhood-onset AMD, which is not always accompanied by daytime muscular symptoms, especially in mild patients. PSG should be utilized for detecting SDB, which could be one of the earliest signs of respiratory muscle involvement in childhood-onset AMD.
Nabatame S; Taniike M; Sakai N; Kato-Nishimura K; Mohri I; Kagitani-Shimono K; Okinaga T; Tachibana N; Ozono K
Brain and Development
2009
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<a href="http://doi.org/10.1016/j.braindev.2008.03.007" target="_blank" rel="noreferrer noopener">10.1016/j.braindev.2008.03.007</a>
Naltrexone therapy of apnea in children with elevated cerebrospinal fluid beta-endorphin
beta-Endorphin/cerebrospinal fluid; Male; Sleep Apnea Syndromes/cerebrospinal fluid/drug therapy; Infant Newborn; Leigh Disease/cerebrospinal fluid; Child; Humans; Prospective Studies; Naltrexone/therapeutic use; Female; Child Preschool; Infant; Biomarkers of Pain; child; female; male; beta-Endorphin/cerebrospinal fluid; Naltrexone/therapeutic use; Sleep Apnea Syndromes/cerebrospinal fluid/drug therapy; breathing difficulties; Leigh syndrome; pharmacologic intervention; oral naltrexone; naltrexone; sleep apnea
Previous studies have indicated increased immunoreactivity of the endogenous opioid peptide beta-endorphin in the cerebrospinal fluid (CSF) of infants under 2 years of age with apnea. To assess the role of endogenous opioids in the pathogenesis of apnea in children, the effect of oral treatment with the opioid antagonist naltrexone was studied in apneic infants, as well as in older apneic children, with demonstrated increases in CSF immunoreactive beta-endorphin (i-BE). In the 8 apneic infants with elevated i-BE in lumbar CSF (range, 55-155 pg/ml; normal, 17-52 pg/ml), no further apnea occurred during naltrexone therapy (1 mg/kg/day, by mouth). Five children (2-8 years old) with apnea of unknown cause had elevated CSF i-BE (range, 74-276 pg/ml) compared to 6 age-matched nonapneic children (range, 15-48 pg/ml). No apneic events occurred during naltrexone therapy, except in 1 child during stressful events, but apnea recurred in some patients after attempts to discontinue naltrexone treatment. Adverse effects of naltrexone included complaints of headaches in 2 children and symptoms of a narcotic withdrawal syndrome during the first 3 days of treatment in 1 child. Three children with Leigh's syndrome had elevated CSF i-BE (range, 104-291 pg/ml) and their apnea also responded to naltrexone. We conclude that elevated endogenous opioids contribute to the pathogenesis of apnea in children and may even result in physical dependence.
Myer E C; Morris D L; Brase D A; Dewey W L; Zimmerman A W
Annals of Neurology
1990
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<a href="http://doi.org/10.1002/ana.410270112" target="_blank" rel="noreferrer noopener">10.1002/ana.410270112</a>
The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome
Psychology; children; adolescents; epidemiology; diagnosis; questionnaire; Rett syndrome; behavioural phenotype; Psychiatry; mecp2 mutations; intellectual disability; mental-retardation; cpg-binding protein-2; MECP2; mental retardation; population prevalence; psychopathology; x-chromosome inactivation; behavioral problems; breathing difficulties; sleep disturbance; tone and motor problems; tool development; scale development; RSBQ
Background: Although physical features, including loss of hand skills, deceleration of head growth, spasticity and scoliosis, are cardinal features of Rett syndrome (RS), a number of behavioural features are also associated with the disorder, including hand stereotypies, hyperventilation and breath holding. No study has tested the specificity of these behavioural features to individuals with RS, compared to individuals with severe to profound mental retardation (SMR). Method: A novel checklist of characteristic RS behavioural and emotional features, the Rett Syndrome Behaviour Questionnaire (RSBQ), was developed to test the type and specificity of behavioural features of RS against those found in girls with SMR. Results: After controlling for the effects of RS-related physical disabilities, the RSBQ discriminated between the groups. Some aspects of the behaviours found to be specific to RS are included in the necessary or supportive RS diagnostic criteria, notably hand behaviours and breathing problems. Additional behavioural features were also more frequently reported in the RS than the SMR group, including mood fluctuations and signs of fear/anxiety, inconsolable crying and screaming at night, and repetitive mouth and tongue movements and grimacing. Conclusions: Full validation of the scale requires confirmation of its discriminatory power and reliability with independent samples of individuals with RS and SMR. Further delineation of the specific profile of behaviours seen in RS may help in identification of the function of the MECP2 gene and in improved differential diagnosis and management of individuals with RS.
Mount R H; Charman T; Hastings R P; Reilly S; Cass H
Journal of Child Psychology and Psychiatry
2002
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1111/1469-7610.00236" target="_blank" rel="noreferrer noopener">10.1111/1469-7610.00236</a>
Sleep-disordered breathing in children with achondroplasia
Pediatrics; death; unexpected; apnea; cervicomedullary compression; decompression; infants; obstruction; respiratory complications; breathing difficulties; achondroplasia; trajectory; characteristics; obstructive sleep apnea; central apnea
Objective: Our objective was to characterize sleep-disordered breathing in 88 children with achondroplasia aged 1 month to 12.6 years. Results: At the time of their initial polysomnography, five children had previously undergone tracheostomy, and seven children required supplemental oxygen. Initial polysomnography demonstrated a median obstructive apnea index of 0 (range, 0 to 19.2 apneas/hr). The median number of central apneas with desaturation per study was 0.5 (0 to 49), the median oxygen saturation nadir was 91% (50% to 99%), and the median peak end-tidal pCO(2) was 47 mm Hg (36 to 87 mm Hg). Forty-two children (47.7%) had abnormal initial study results, usually caused by hypoxemia. Two children with severe obstructive sleep apnea eventually required continuous positive airway pressure therapy, and three additional children required tracheostomies. Conclusions: (1) Children with achondroplasia often have sleep-related respiratory disturbances, primarily hypoxemia. (2) The majority do not have significant obstructive or central apnea; however, a substantial minority are severely affected. (3) Tonsillectomy and adenoidectomy decreases the degree of upper airway obstruction in most but not all children with achondroplasia and obstructive sleep apnea. (4) Restrictive lung disease can present at a young age in children with achondroplasia.
Mogayzel P J; Carroll J L; Loughlin G M; Hurko O; Francomano C A; Marcus C L
Journal of Pediatrics
1998
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/s0022-3476(98)70358-0" target="_blank" rel="noreferrer noopener">10.1016/s0022-3476(98)70358-0</a>
Sleep disordered breathing in spinal muscular atrophy
Child; Cyclic AMP; Response Element-Binding Protein; Disease Progression; Female; Humans; Male; Muscle; Skeletal/pa [Pathology] Muscle; breathing difficulties; SMA1; physical intervention; non-invasive positive pressure ventilation; disordered breathing
Sleep disordered breathing is a common but under-diagnosed complication causing sleep disturbance and daytime symptoms in children with spinal muscular atrophy. Non-invasive (positive pressure) ventilation is an established treatment of respiratory failure; its role in treatment of sleep disordered breathing though remains controversial. Aim of this study was to verify the hypothesis that nocturnal non-invasive ventilation has beneficial impact on breathing during sleep, sleep quality and daytime complaints in children with spinal muscular atrophy. Twelve children with spinal muscular atrophy type I or II (7.8+/-1.9 years) underwent polysomnography and were asked to fill out a symptom questionnaire. Seven patients (six with spinal muscular atrophy I and one with spinal muscular atrophy II) had sleep disordered breathing and received non-invasive ventilation during sleep. Five less severely affected patients (one with spinal muscular atrophy I and four with spinal muscular atrophy II) had no sleep disordered breathing and served as reference group. Patients were restudied after 6-12 months. In patients with sleep disordered breathing both sleep architecture and disease related symptoms were significantly worse than in the reference-group. Non-invasive ventilation during sleep completely eliminated disordered breathing, normalized sleep architecture and improved symptoms (P<0.05 for all). In children with spinal muscular atrophy sleep disordered breathing may cause relevant impairment of sleep and well-being. Both can be highly improved by nocturnal non-invasive ventilation.
Mellies U; Dohna-Schwake C; Stehling F V T
Neuromuscular Disorders
2004
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.nmd.2004.09.004" target="_blank" rel="noreferrer noopener">10.1016/j.nmd.2004.09.004</a>
Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
Genotype; caregiver; Developmental disability; priority journal; data base; school child; autonomic dysfunction; noninvasive ventilation; oxygen; human; article; child; female; male; adult; questionnaire; Rett syndrome; breathing disorder; hyperventilation; mecp2; bloating; breath holding; Breathing disorders; breathing pattern; International database; mutation; onset age; Rare disorder; rebreathing; breathing difficulties; trajectory; characteristics; breath-holding; hyperventilation; abdominal bloating
Background: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. Methods: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing. Results: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294*mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation. Conclusions: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways. Copyright © 2017 The Author(s).
MacKay J; Downs J; Wong K; Heyworth J; Epstein A; Leonard H
Journal of Neurodevelopmental Disorders
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1186/s11689-017-9196-7" target="_blank" rel="noreferrer noopener">10.1186/s11689-017-9196-7</a>
Disordered breathing during sleep in patients with mucopolysaccharidoses
breathing difficulties; sleep disturbance; Galactosialidosis; MPSI; MPSII; MPSIII; MPSIIIA; MPSIIIB; MPSVI; MPSVII; trajectory; characteristics; obstructive sleep apnea; OSA; frequent awakenings; poor sleep quality
Objective: Obstructive sleep apnoea (OSA) has been reported as a feature of children with mucopolysaccharidoses (MPS). However, the incidence and severity of OSA with respect to disease type is poorly defined. The aim of the present study was to measure objectively the degree of OSA in a group of children with a range of MPS syndromes. Methods: In a cross-sectional study, cardiopulmonary sleep studies were performed during unsedated sleep in 26 children with MPS over a period of 2 years. Scores of OSA severity based upon clinical history and upon objective sleep study data were made in each case and compared. Results: OSA was present in 24/26 patients, and ranged in severity from mild to severe. OSA was most marked in MPS type IH (Hurler syndrome) followed by types IHS (Hurler–Scheie syndrome) and II (Hunter syndrome). Frequent arousals and poor sleep quality, not suspected clinically, were noted in several patients. There was agreement between the clinical and objective scoring systems in only 17/26 patients (65%) with clinical history scores tending to underestimate the most severe cases (5/26 cases) and overestimate the severity in the mild cases (4/26 cases). Conclusions: Obstructive respiratory problems are frequent in MPS patients and there are differences in severity of OSA between the different MPS types. Assessments of the severity of OSA based upon clinical history alone are inadequate. Our results suggest that objective sleep studies are necessary to evaluate these cases, to monitor clinical outcome and to assess the effects of therapeutic intervention. Prospective studies in larger numbers of patients are needed to validate these observations.
Leighton SEJ; Papsin B; Vellodi A; Dinwiddie R; Lane R
International Journal of Pediatric Otorhinolaryngology
2001
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/S0165-5876(01)00417-7" target="_blank" rel="noreferrer noopener">10.1016/S0165-5876(01)00417-7</a>
Pediatric leukodystrophies: The role of the otolaryngologist
adolescent; dysphagia; priority journal; cohort analysis; physician attitude; nose feeding; human; article; child; adult; clinical article; comorbidity; hearing impairment; anamnesis; physical examination; leukodystrophy/dt [Drug Therapy]; otolaryngologist; 1309378-01-5 (botulinum toxin A); 1638949-86-6 (botulinum toxin A); 1800016-51-6 (botulinum toxin A); 93384-43-1 (botulinum toxin A); aspiration pneumonia; botulinum toxin A/dt [Drug Therapy]; Drool; Quality of Life; Assessment; Questionnaire; head and neck disease; hypersalivation/su [Surgery]; leukodystrophy/dt [Drug Therapy]; quality of life assessment; stomach tube; breathing difficulties; feeding difficulties; sleep disturbance; Aicardi-Goutières syndrome; Krabbe disease; leukodystrophy; Pelizaeus-Merzbacher disease; x-linked adreno-leukodystrophy; trajectory; characteristics; drooling
Background Leukodystrophies consist of degenerative neurogenetic diseases often associated with comorbidities that extend beyond the neurological system. Despite their impacts on patients' quality of life and risks of complications, head and neck symptomology is poorly reported in the literature. The objective of this study was to identify and quantify the main head and neck complaints among a cohort of patients diagnosed with leukodystrophies and define the role of the otolaryngologist as part of a multidisciplinary team for treating these patients. Methods During the First Canadian National Conference on Leukodystrophies held at the Montreal's Children Hospital, a cohort of 12 patients diagnosed with leukodystrophies were recruited and evaluated by a multidisciplinary team. An otolaryngology-focused assessment was done through history and physical examination, and included a screening questionnaire for 23 common otolaryngology issues. If families reported a history of sialorrhea, a validated questionnaire (Drool Quality of Life Assessment Questionnaire (DroolQoL)) was subsequently distributed. Results from the questionnaires were then compiled and analyzed. Results Of the 12 recruited patients, 83% (10/12) were known to an otolaryngologist. Drooling affected 67% (8/12) of patients although only 37.5% (3/8) of patients had undergone medical or surgical therapies for this issue. Four patients experienced at least one aspiration pneumonia. 58% (7/12) of the patients had dysphagia, of whom 43% (3/12) were fed exclusively via gastrostomy tube and 28% (2/7) required thickening of feeds. Two patients, despite suspicion of dysphagia and aspiration, had never undergone evaluation. As for otologic issues, it was noted that 25% (3/12) of patients had a history of pressure equalizing tubes (PETs) and one patient had a history of hearing loss. Conclusion Head and neck comorbidities affect children with leukodystrophies. Therefore, the otolaryngologist should be part of the multidisciplinary team, specifically for the management of dysphagia and sialorrhea.
Kay-Rivest E; Khendek L; Bernard G; Daniel S J
International Journal of Pediatric Otorhinolaryngology
2017
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<a href="http://doi.org/10.1016/j.ijporl.2017.07.039" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2017.07.039</a>
Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
Pediatrics; hyperventilation; angiotensin-ii; autonomic system; brain stem; component; dysautonomia; immaturity; neurons; nucleus-tractus-solitarii; protein-2; real-time; reflexes; Rett disorder; vagal tone; breathing difficulties; Rett syndrome; trajectory; characteristics; abnormal respiratory rhythm
Aim-To investigate breathing rhythm and brain stem autonomic control in patients with Rett disorder. Setting-Two university teaching hospitals in the United Kingdom and the Rett Centre, Sweden. Patients-56 female patients with Rett disorder, aged 2-35 years; 11 controls aged 5-28 years. Design-One hour recordings of breathing movement, blood pressure, ECG R-R interval, heart rate, transcutaneous blood gases, cardiac vagal tone, and cardiac sensitivity to baroreflex measured on-line with synchronous EEG and video. Breathing rhythms were analysed in 47 cases. Results-Respiratory rhythm was normal during sleep and abnormal in the waking state. Forced and apneustic breathing were prominent among 5-10 year olds, and Valsalva breathing in the over 18 year olds, who were also most likely to breathe normally. Inadequate breathing peaked among 10-18 year olds. Inadequate and exaggerated breathing was associated with vacant spells. Resting cardiac vagal tone and cardiac sensitivity to baroreflex were reduced. Conclusions-Labile respiratory rhythms and poor integrative inhibition in Rett disorder suggest brain immaturity. Linking this to an early monoaminergic defect suggests possible targets for the MECP2 gene in clinical intervention. Exaggerated and inadequate autonomic responses may contribute to sudden death.
Julu P O O; Kerr A M; Apartopoulos F; Al-Rawas S; Engerstrom I W; Engerstrom L; Jamal G A; Hansen S
Archives of Disease in Childhood
2001
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<a href="http://doi.org/10.1136/adc.85.1.29" target="_blank" rel="noreferrer noopener">10.1136/adc.85.1.29</a>
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI
clinical feature; priority journal; preschool child; cross-sectional study; prospective study; human; article; child; female; male; controlled study; clinical article; prevalence; disease severity; pulmonary hypertension; polysomnography; disease association; anamnesis; apnea; Doppler echocardiography; Glycosaminoglycans; Lysosomal storage diseases; lysosome storage disease; macroglossia; Maroteaux Lamy syndrome; Morquio syndrome; Mucopolysaccharidosis; oxygen saturation; oxygen/ec [Endogenous Compound]; physical examination; pigeon thorax; Sleep apnea; sleep apnea syndrome/di [Diagnosis]; sleep disorder; snoring; breathing difficulties; MPSVI; trajectory; characteristics; witnessed apnea
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease that affects an enzyme responsible for the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate in several tissues, such as the upper airways (UA), which leads to the development of obstructive sleep apnea (OSA). Our objective was to determine the prevalence of OSA in a group of untreated patients with MPS VI and the association of OSA with clinical and echocardiographic findings. Patients aged 4 years or older with a biochemical diagnosis of MPS VI were included. Data about clinical history, physical examination, Doppler echocardiogram, and overnight polysomnography (PSG) were collected. Our results showed that of the 28 participants, 14 were boys; mean age was 98.5 months, and mean age at MPS VI diagnosis was 48.4 months. Snoring, witnessed apnea, pectus carinatum, and macroglossia were the main clinical findings. PSG results showed that 23:27 patients (85.1%) had OSA which was mild in 4, moderate in 5, and severe in 14 patients. Echocardiograms showed evidence of pulmonary hypertension (PH) in 14 patients. Lower (P=0.037) and nadir SpO<inf>2</inf> (P=0.007) were positively associated with PH. Clinical signs suggestive of respiratory abnormalities during sleep were not significantly correlated with the results of PSG. We conclude that the prevalence of OSA in patients with MPS VI was high, and the level of desaturation was positively correlated with PH. Symptoms during sleep were not associated with PSG findings, which suggests that this population should undergo routine PSG as earlier as possible. This study provides baseline data to estimate the potential impact of specific treatments in the sleep abnormalities presented by patients with MPS VI. © 2011 Wiley-Liss, Inc.
John A; Fagondes S; Schwartz I; Azevedo A C; Barrios P; Dalcin P; Menna-Barreto S; Giugliani R
American Journal of Medical Genetics Part A
2011
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<a href="http://doi.org/10.1002/ajmg.a.33902" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.33902</a>
Sixty-four patients with Brachmann-de Lange syndrome: a survey
Male; Surveys and Questionnaires; Child; Humans; Female; Psychomotor Performance; Birth Weight; De Lange Syndrome/etiology/genetics/physiopathology; behavioral problems; breathing difficulties; feeding difficulties; De Lange syndrome; trajectory; characteristics; respiratory tract symptoms
We surveyed 64 individuals with the diagnosis of Brachmann-de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange Syndrome (CDLS) Foundation, comprised of families who have a relative with BDLS. We surveyed 64 families by questionnaire and personally examined 24 of the 64. Our data suggest that lower birth weight correlates with a more severe phenotype, specifically including severe upper limb malformations and greater psychomotor retardation. The lower birth weight group showed a significant excess of females. The miscarriage rate was normal and there were no recurrences reported in the 64 families we surveyed. Major management problems included feeding problems and projectile vomiting, behavioral problems including frequent tantrums, hearing and dental difficulties, and recurrent respiratory tract infections. The oldest, teenaged subjects in our study entered puberty; although pregnancy has not been reported in the syndrome, it is likely that people with BDLS are fertile. Though most BDLS children reared at home survive through adolescence, a significant degree of psychomotor retardation and difficult medical management problems still occur.
Hawley P P; Jackson L G; Kurnit D M
American Journal of Medical Genetics
1985
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<a href="http://doi.org/10.1002/ajmg.1320200306" target="_blank" rel="noreferrer noopener">10.1002/ajmg.1320200306</a>
Respiratory disturbances in rett syndrome: Don't forget to evaluate upper airway obstruction
breathing difficulties; Rett syndrome; trajectory; characteristics; respiratory muscle strength
Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances. Polysomnography in combination with a questionnaire (the Sleep Disturbance Scale for Children) was performed in 12 Dutch patients with Rett. Respiratory disturbances were present in all, clinically relevant in 10 (apnea hypopnea per hour 1.0-14.5). In 8 children, central apneas were present during the day often with obstructive apneas at night. In 6, obstructive sleep apnea syndrome was diagnosed, in 3 severe, with frequent oxygen desaturations. Significant respiratory complaints were present in 3 patients, all had obstructive sleep apnea syndrome. Of the 12 patients with Rett, 8 (67%) snored, and in 5 obstructive sleep apnea syndrome was present. In children, hypertrophied tonsils and adenoids are a common cause of obstructive sleep apnea syndrome, which may benefit from therapeutic intervention. We recommend performing polysomnography in patients with Rett syndrome and respiratory complaints. © The Author(s) 2012.
Hagebeuk E E O; Bijlmer R P G M; Koelman J H T M; Poll-The B T
Journal of Child Neurology
2012
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<a href="http://doi.org/10.1177/0883073811429859" target="_blank" rel="noreferrer noopener">10.1177/0883073811429859</a>
Rett's syndrome: Characterization of respiratory patterns and sleep
etiology; ataxia; major clinical study; central nervous system; priority journal; seizure; human; child; diagnosis; Rett syndrome; autism; dementia; heredity; hyperpnea; respiratory system; sleep; breathing difficulties; sleep disturbance; trajectory; characteristics; abnormal respiratory problems; abnormal sleep patterns
Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand movements (hand-washing) and to exhibit intermittent hyperventilation. To characterize more precisely the sleep and respiratory patterns associated with this disorder, polygraphic studies were made during sleep and wakefulness in 11 patients with this syndrome. These studies showed abnormal respiratory patterns during wakefulness, and abnormal sleep and electroencephalographic characteristics. The patients had decreased percentages of rapid-eye-movement sleep, and during wakefulness, a pattern of disorganized breathing was observed in all 11 patients and consisted of hypoxia followed by a period of increased respiratory rate and effort. The occurrence of disorganized breathing and compensatory hyperpnea during wakefulness with regular, continuous breathing during sleep is characteristic of Rett's syndrome and suggests an altered or impaired voluntary/behavioral respiratory control system.
Glaze D G; Frost Jr J D; Zoghbi H Y; Percy A K
Annals of Neurology
1987
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<a href="http://doi.org/10.1002/ana.410210410" target="_blank" rel="noreferrer noopener">10.1002/ana.410210410</a>
Sleep problems and daytime problem behaviours in children with intellectual disability
children; Rehabilitation; adolescents; Neurology; disorders; Education & Educational Research; Genetics & Heredity; Neurosciences &; Psychiatry; handicapped-children; disturbance; challenging behavior; adults; community-based sample; daytime problem behaviour; difficulties; severe learning-disabilities; sleep problem; behavior; breathing difficulties; sleep disturbance; urinary incontinence; Rett syndrome; tuberous sclerosis; trajectory; characteristics; intellectual disability
BACKGROUND: Sleep problems are common among children with intellectual disability (ID). METHOD: The present study assessed the prevalence of severe sleep problems in a sample of children (n=286) with mild to profound ID who lived at home with their parents(s) in the Netherlands. It also explored relationships between severe sleep problems, and family and child variables. Demographic information, data on children's sleep behaviours and parent variables were collected using questionnaires. RESULTS: Severe settling problems, night waking and early waking were present in 4.2%, 10.8% and 4.2% of cases, respectively; 16.1% of children had at least one type of sleep problem. Children with a severe sleep problem had more severe levels of ID, used medication more often, had a greater frequency of epilepsy, were younger, had a greater frequency of cerebral palsy, and showed more daytime drowsiness and daytime napping than children without a severe sleep problem. Furthermore, children with a severe sleep problem showed more severe levels of daytime problem behaviours; for example, aggression, non-compliance and hyperactivity. CONCLUSION: The results of the present study are discussed with regard to the assessment and treatment of sleep problems in children with ID.
Didden R; Korzilius H; van Aperlo B; van Overloop C; de Vries M
Journal of Intellectual Disability Research
2002
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<a href="http://doi.org/10.1046/j.1365-2788.2002.00404.x" target="_blank" rel="noreferrer noopener">10.1046/j.1365-2788.2002.00404.x</a>
Increased prevalence of sleep-disordered breathing in Friedreich ataxia
reliability; Neurosciences & Neurology; disease; scale; adults; apnea syndrome; daytime sleepiness; breathing difficulties; Friedreich's ataxia; trajectory; characteristics; obstructive sleep apnea
Objectives: We sought to document the prevalence and nature of sleep-disordered breathing (SDB) in individuals with Friedreich ataxia (FRDA) as well as establish the relationship, if any, between SDB and clinical parameters of FRDA. Methods: Eighty-two individuals with FRDA were administered the Epworth Sleepiness Scale on an annual basis for up to 3 years. Individuals were referred for a sleep study if they had an Epworth Sleepiness Scale score >8 or had clinical symptoms suggestive of SDB. Results: From this cohort, 21 individuals underwent a sleep study and 17 were diagnosed with obstructive sleep apnea syndrome, giving a minimum prevalence of 21%, which is greater than that found in the general population (3%-7%). Moreover, the presence of obstructive sleep apnea was significantly correlated with the duration of disease and clinical severity of FRDA. Conclusion: It is recommended that individuals with FRDA undergo regular screening for obstructive sleep apnea to identify the need for a sleep study and subsequent treatment if SDB is diagnosed.
Corben L A; Ho M; Copland J; Tai G; Delatycki M B
Neurology
2013
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<a href="http://doi.org/10.1212/WNL.0b013e318297ef18" target="_blank" rel="noreferrer noopener">10.1212/WNL.0b013e318297ef18</a>
Direct Observation of the Behaviour of Females with Rett Syndrome
behavior; breathing difficulties; tone and motor problems; Rett syndrome; trajectory; characteristics; hand stereotypies; stereotypy; self-injury
The aim was to observe the behaviour of a sample of females with RTT and explore how it was organized in relation to environmental events. Ten participants, all with a less severe form of classic (n = 9) or atypical (n = 1) Rett syndrome (RTT), were filmed at home and at school or day centre. Analysis used real-time data capture software. Observational categories distinguished engagement in social and non-social pursuits, hand stereotypies, self-injury and the receipt of attention from a parent, teacher or carer. Associations between participant behaviour and intake variables and receipt of attention were explored. Concurrent and lagged conditional probabilities between behavioural categories and receipt of attention were calculated. Receipt of adult attention was high. Engagement in activity using the hands was associated with a less severe condition and greater developmental age. Engagement in activity, whether using the hands or not, and social engagement were positively associated with receipt of support. The extent of hand stereotypies varied greatly across participants but was independent of environmental events. Six participants self-injured. There was some evidence that self-injury was related to adult attention. Participants appeared to experience a carer and attention rich environment and their levels of engagement seemed high as a result. As in the more general literature, engagement in activity was related to personal development and to social support. Self-injury contrasted with hand stereotypies in having possible environmental function.
Cianfaglione R; Meek A; Clarke A; Kerr M; Hastings R P; Felce D
Journal of Developmental and Physical Disabilities
2016
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<a href="http://doi.org/10.1007/s10882-016-9478-0" target="_blank" rel="noreferrer noopener">10.1007/s10882-016-9478-0</a>
A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health
breathing difficulties; constipation; feeding difficulties; tone and motor problems; Rett syndrome; trajectory; characteristics; epilepsy; weight; gastrointestinal problems; bowel problems
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.
Cianfaglione R; Clarke A; Kerr M; Hastings R P; Oliver C; Felce D
American Journal of Medical Genetics Part A
2015
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<a href="http://doi.org/10.1002/ajmg.a.37027" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.37027</a>
A national survey of Rett syndrome: behavioural characteristics
behavior; breathing difficulties; tone and motor problems; Rett syndrome; trajectory; characteristics; hand stereotypies; stereotypy; breathing problems; sleep problems; anxiety; inappropriate fear
BACKGROUND: The aim was to gain a UK national sample of people with Rett syndrome (RTT) across the age range and compare their characteristics using a variety of relevant behavioural measures with a well-chosen contrast group. METHODS: The achieved sample was 91 girls and women, aged from 4 to 47 years, of whom 71 were known to be MECP2 positive. The contrast group (n = 66), matched for age, gender, language and self-help skills, comprised individuals with six other syndromes associated with intellectual disability. Parental questionnaire measures of RTT specific characteristics, impulsivity, overactivity, mood, interest and pleasure, repetitive behaviour and self-injury were administered. RESULTS: Hand stereotypies, breathing irregularities, night-time unrest and anxiety or inappropriate fear were commonly reported among the RTT sample. Problems of low mood were also reported as common. However, mood and interest and pleasure were no lower than found in the contrast group. In addition, self-injury was lower than in the contrast group and was associated with factors found to predict self-injury in other groups of people with severe intellectual disabilities. CONCLUSIONS: There is variability in the manifestation of problem behaviours potentially associated with the syndrome across individuals, with some more severely affected in most areas than others. Some of this variability appears to be underpinned by genetic mutation.
Cianfaglione R; Clarke A; Kerr M; Hastings R P; Oliver C; Moss J; Heald M; Felce D
Journal of Neurodevelopmental Disorders
2015
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1186/s11689-015-9104-y" target="_blank" rel="noreferrer noopener">10.1186/s11689-015-9104-y</a>
Findings from a multidisciplinary clinical case series of females with Rett syndrome
breathing difficulties; constipation; feeding difficulties; sleep disturbance; Rett syndrome; trajectory; characteristics
Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.
Cass Hilary; Reilly S; Owen L; Wisbeach A; Weekes L; Slonims V; Wigram T; Charman T
Developmental Medicine and Child Neurology
2003
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1017/s0012162203000616" target="_blank" rel="noreferrer noopener">10.1017/s0012162203000616</a>
Polysomnographic findings in Rett syndrome: a case-control study
Case-Control Studies; Child; Humans; Female; Reference Values; Sleep; Polysomnography; Signal Processing Computer-Assisted; Sleep REM; Rett Syndrome; Cerebral Cortex; Wakefulness; breathing difficulties; sleep disturbance; tone and motor problems; Rett syndrome; trajectory; characteristics; periodic limb movement; obstructive apnea
PURPOSE: Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and usually linked to mutations in the methyl-CpG-binding protein 2 gene, with an estimated prevalence of 1 in 10,000 live female births. Clinical features which usually become more apparent over time include breathing dysfunction, seizures, spasticity, peripheral vasomotor disturbance, scoliosis, growth retardation, and hypotrophic feet, with a great variety of presentations. The clear immaturity in brainstem mechanisms is expressed by the presence of early sleep disorders such as nocturnal awakenings, bruxism, and difficulty falling asleep, and no conclusive findings were derived from the few polysomnographic studies about the sleep macrostructural aspects. The aim of this study is to analyze the sleep macrostructural parameters, the nocturnal respiratory characteristic, and the presence of periodic limb movements in a sample of children affected by Rett syndrome. MATERIALS: Thirteen Rett subjects underwent a polysomnographic study, and the findings were compared with those obtained by a group of 40 healthy children. RESULTS: The Rett group shows a great impairment in sleep macrostructural and respiratory parameters, with a higher percentage of pathological periodic limb movements than the controls. CONCLUSIONS: This study may be considered a report about the ventilatory impairment during sleep in Rett syndrome and the first approach to the macrostructural aspects of sleep supported by the PSG data that could be considered mandatory for a better comprehension of this very complex syndrome.
Carotenuto M; Esposito M; D'Aniello A; Rippa C D; Precenzano F; Pascotto A; Bravaccio C; Elia M
Sleep & Breathing
2013
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s11325-012-0654-x" target="_blank" rel="noreferrer noopener">10.1007/s11325-012-0654-x</a>
Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales
children; Anxiety; Intellectual disabilities; Neurosciences & Neurology; Rett syndrome; mecp2; mental-retardation; fragile-x-syndrome; checklist; autism spectrum disorder; down-syndrome; mouse model; Problematic behavior; quality-of-life; severity; Social avoidance; behavior; breathing difficulties; sleep disturbance; trajectory; characteristics
Background: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on communication, motor impairments, and hand stereotypies, behavioral abnormalities are a prevalent and disabling component of the RTT phenotype. Among these problematic behaviors, anxiety is a prominent symptom. While the introduction of the Rett Syndrome Behavioral Questionnaire (RSBQ) represented a major advancement in the field, no systematic characterization of anxious behavior using the RSBQ or other standardized measures has been reported. Methods: This study examined the profiles of anxious behavior in a sample of 74 girls with RTT, with a focus on identifying the instrument with the best psychometric properties in this population. The parent-rated RSBQ, Anxiety, Depression, and Mood Scale (ADAMS), and Aberrant Behavior Checklist-Community (ABC-C), two instruments previously employed in children with neurodevelopmental disorders, were analyzed in terms of score profiles, relationship with age and clinical severity, reliability, concurrent validity, and functional implications. The latter were determined by regression analyses with the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and the Child Health Questionnaire (CHQ), a quality of life measure validated in RTT. Results: We found that scores on anxiety subscales were intermediate in range with respect to other behavioral constructs measured by the RSBQ, ADAMS, and ABC-C. Age did not affect scores, and severity of general anxiety was inversely correlated with clinical severity. We demonstrated that the internal consistency of the anxiety-related subscales were among the highest. Test-retest and intra-rater reliability was superior for the ADAMS subscales. Convergent and discriminant validity were measured by inter-scale correlations, which showed the best profile for the social anxiety subscales. Of these, only the ADAMS Social Avoidance showed correlation with quality of life. Conclusions: We conclude that anxiety-like behavior is a prominent component of RTT's behavioral phenotype, which affects predominantly children with less severe neurologic impairment and has functional consequences. Based on available data on standardized instruments, the ADAMS and in particular its Social Avoidance subscale has the best psychometric properties and functional correlates that make it suitable for clinical and research
Barnes K V; Coughlin F R; O'Leary H M; Bruck N; Bazin G A; Beinecke E B; Walco A C; Cantwell N G; Kaufmann W E
Journal of Neurodevelopmental Disorders
2015
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1186/s11689-015-9127-4" target="_blank" rel="noreferrer noopener">10.1186/s11689-015-9127-4</a>
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes
Cross-Sectional Studies; Age Factors; Male; Treatment Outcome; Comorbidity; Child; Humans; Adolescent; Cohort Studies; Female; Child Preschool; Infant; Polysomnography; Body Mass Index; Achondroplasia/di [Diagnosis]; Achondroplasia/th [Therapy]; Sleep Apnea Central/di [Diagnosis]; Sleep Apnea Central/th [Therapy]; Sleep Apnea Obstructive/di [Diagnosis]; Sleep Apnea Obstructive/th [Therapy]; Achondroplasia/ep [Epidemiology]; Airway Obstruction/di [Diagnosis]; Airway Obstruction/ep [Epidemiology]; Airway Obstruction/th [Therapy]; Sleep Apnea Central/ep [Epidemiology]; Sleep Apnea Obstructive/ep [Epidemiology]; breathing difficulties; achondroplasia; trajectory; characteristics; obstructive sleep apnea
PURPOSE: We report aspects of sleep-disordered breathing in a cohort of achondroplastic children who attended our hospital. METHODS: A retrospective chart review was conducted for a 15-year period to further evaluate the diagnosis and treatment of sleep-disordered breathing in children with achondroplasia. RESULTS: A review of the medical records was undertaken for 46 children (63%, mean age 3.9 years) with achondroplasia that had overnight polysomnography. Among them, 25 (54.3%) had obstructive sleep apnea (OSA). For 19 out of 46 patients (follow-up rate, 41.3%) with a mean follow-up of 31.3 months (range, 3 month to 11 years), 13 had undergone adenotonsillectomy, while nine were treated with continuous positive airway pressure. CONCLUSIONS: Prospective evaluation of our clinic population confirms a high incidence of SDB in achondroplastic children. OSA has been linked to raise intracranial pressure as well as neurocognitive deficits in children and we hypothesize that associations between neurological and respiratory abnormalities in this disorder are a consequence of the early onset of associated respiratory, rather than the neurological complications.
Afsharpaiman S; Sillence D O; Sheikhvatan M; Ault J E; Waters K
Sleep and Breathing
2011
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s11325-010-0432-6" target="_blank" rel="noreferrer noopener">10.1007/s11325-010-0432-6</a>