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 natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Child; Female; Humans; Male; Adult; Disease Progression; Age Factors; Severity of Illness Index; Magnetic Resonance Imaging; adolescent; Q3 Literature Search; Diagnosis; Differential; Chromosomes; Human; Electroencephalography; Atrophy/complications/pathology; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Cerebellar Ataxia/complications/diagnosis; Cerebellum/pathology/physiopathology; Dementia/complications/diagnosis; Dystonia/complications/diagnosis; Electromyography; Evoked Potentials; Evoked Potentials/physiology; Myoclonus/complications/diagnosis; Neuropsychological Tests; Pair 21/genetics; Seizures/complications/diagnosis; Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6-14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21-37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory.
2008
Chew NK; Mir P; Edwards MJ; Cordivari C; Martino D; Schneider SA; Kim HT; Quinn NP; Bhatia KP
Movement Disorders: Official Journal Of The Movement Disorder Society
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).
Journal Article
<a href="http://doi.org/10.1002/mds.21812" target="_blank" rel="noreferrer">10.1002/mds.21812</a>
Meditation experience predicts less negative appraisal of pain: electrophysiological evidence for the involvement of anticipatory neural responses
Female; Humans; Male; Young Adult; Adult; Middle Aged; Analysis of Variance; Regression Analysis; Brain Mapping; Dose-Response Relationship; Evoked Potentials; Pain Threshold/physiology; Electroencephalography/methods; Pain Measurement/methods; Cerebral Cortex/physiology; Lasers/adverse effects; Meditation/methods; Pain/etiology/physiopathology/psychology/rehabilitation; Radiation; Somatosensory/physiology
The aim of mindfulness meditation is to develop present-focused, non-judgmental, attention. Therefore, experience in meditation should be associated with less anticipation and negative appraisal of pain. In this study we compared a group of individuals with meditation experience to a control group to test whether any differences in the affective appraisal of pain could be explained by lower anticipatory neural processing. Anticipatory and pain-evoked ERPs and reported pain unpleasantness were recorded in response to laser stimuli of matched subjective intensity between the two groups. ERP data were analysed after source estimation with LORETA. No group effects were found on the laser energies used to induce pain. More experienced meditators perceived the pain as less unpleasant relative to controls, with meditation experience correlating inversely with unpleasantness ratings. ERP source data for anticipation showed that in meditators, lower activity in midcingulate cortex relative to controls was related to the lower unpleasantness ratings, and was predicted by lifetime meditation experience. Meditators also reversed the normal positive correlation between medial prefrontal cortical activity and pain unpleasantness during anticipation. Meditation was also associated with lower activity in S2 and insula during the pain-evoked response, although the experiment could not disambiguate this activity from the preceding anticipation response. Our data is consistent with the hypothesis that meditation reduces the anticipation and negative appraisal of pain, but effects on pain-evoked activity are less clear and may originate from preceding anticipatory activity. Further work is required to directly test the causal relationship between meditation, pain anticipation, and pain experience.
2010
Brown CA; Jones AK
Pain
2010
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).
Journal Article
<a href="http://doi.org/10.1016/j.pain.2010.04.017" target="_blank" rel="noreferrer">10.1016/j.pain.2010.04.017</a>
Infantile neuroaxonal dystrophy (Seitelberger's disease)
Humans; Magnetic Resonance Imaging; Diagnosis; Differential; Electroencephalography; Auditory; Brain Stem/physiology; Brain/pathology/physiopathology; Evoked Potentials; Disease Specific; Neuroaxonal Dystrophies/complications/diagnosis; Pantothenate Kinase-Associated Neurodegeneration/diagnosis; Seizures/diagnosis/etiology; Visual/physiology
2002
Gordon N
Developmental Medicine And Child Neurology
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).
Journal Article
<a href="http://doi.org/10.1111/j.1469-8749.2002.tb00776.x" target="_blank" rel="noreferrer">10.1111/j.1469-8749.2002.tb00776.x</a>
Joubert syndrome: long-term follow-up
Child; Female; Humans; Male; Prognosis; Follow-Up Studies; Magnetic Resonance Imaging; Tomography; X-Ray Computed; Evoked Potentials; Disease Specific; Achilles Tendon/pathology/physiopathology; Cerebellar Ataxia/physiopathology/radiography; Cerebellum/abnormalities/radiography; Developmental Disabilities/physiopathology/radiography; Eye Movements; Pigment Epithelium of Eye/pathology/physiopathology; Visual
2004
Hodgkins PR; Harris CM; Shawkat FS; Thompson DA; Chong K; Timms C; Russell-Eggitt I; Taylor DS; Kriss A
Developmental Medicine And Child Neurology
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).
Journal Article
<a href="http://doi.org/10.1111/j.1469-8749.2004.tb00983.x" target="_blank" rel="noreferrer">10.1111/j.1469-8749.2004.tb00983.x</a>
Recurrent pain attacks in a 3-year-old patient with myoclonus epilepsy associated with ragged-red fibers (MERRF): a single-photon emission computed tomographic (SPECT) and electrophysiological study
Child; Female; Humans; Magnetic Resonance Imaging; Preschool; Q3 Literature Search; Emission-Computed; Tomography; Evoked Potentials; Epilepsies; Recurrence; Pain/diagnosis/drug therapy/etiology; Single-Photon; Somatosensory/physiology; Cytochrome c Group/pharmacology; Flavin Mononucleotide/pharmacology; MERRF Syndrome/complications/diagnosis/physiopathology; Myoclonic/complications/physiopathology/radionuclide imaging; Thalamus/blood supply; Thiamine/pharmacology
We reported a 3-year-old girl with myoclonus epilepsy associated with ragged-red fibers (MERRF) who was afflicted with recurrent pain attacks and allodynia on the right side of the body. Although magnetic resonance imaging showed normal intensity in the thalamus, single-photon emission computed tomography (SPECT) revealed hypoperfusion in the thalamus. Somatosensory evoked potentials showed delayed early cortical responses, particularly on right median nerve stimulation. The parenteral administration of cytochrome c with flavin mononucleotide and thiamine diphosphate abolished the intolerable pain. This clinical improvement was objectively supported by the results of SPECT and neurophysiological findings. These observations suggested that a dysfunction of the thalamus was responsible for her pain and that cytochrome c therapy was of benefit for this symptom.
1997
Tanaka S; Osari S; Ozawa M; Yamanouchi H; Goto Y; Matsuda H; Nonaka I
Brain & Development
1997
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).
Journal Article
<a href="http://doi.org/10.1016/s0387-7604(96)00558-x" target="_blank" rel="noreferrer">10.1016/s0387-7604(96)00558-x</a>
Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies
Child; Female; Humans; Male; Adult; Hearing Loss; Longitudinal Studies; Speech; adolescent; Preschool; IM; Auditory; Evoked Potentials; Acoustic Impedance Tests; Acoustic/ph [Physiology]; Audiometry; Brain Stem/ph [Physiology]; Friedreich Ataxia/di [Diagnosis]; Friedreich Ataxia/pp [Physiopathology]; Kearns-Sayer Syndrome/di [Diagnosis]; Kearns-Sayer Syndrome/pp [Physiopathology]; MELAS Syndrome/di [Diagnosis]; MELAS Syndrome/pp [Physiopathology]; Mitochondrial Encephalomyopathies/di [Diagnosis]; Mitochondrial Encephalomyopathies/pp [Physiopathology]; Otoacoustic Emissions; Pure-Tone; Reflex; Sensorineural/di [Diagnosis]; Sensorineural/pp [Physiopathology]; Spontaneous/ph [Physiology]
OBJECTIVE: Mitochondrial disorders are responsible for a variety of neurological syndromes. Specific mitochondrial DNA mutations have been identified recently in some of these rare disorders. Clinical symptoms may occur in different organs to various extent; often they are associated with progressive hearing loss. The aims of this study were to determine incidence, onset, and characteristics of hearing loss in children with mitochondrial encephalomyopathies and to investigate a possible correlation between the degree of hearing loss and neurological symptoms. In addition, we investigated the prognostic value of hearing loss as a predictor of the disease. STUDY DESIGN: From August 1992 to September 1998, 29 patients ranging in age from 5 to 23 years (mean years) were studied. These children were hospitalized for diagnostic purposes in the neuropediatric department. METHODS: The mitochondrial disorder was diagnosed by clinical and laboratory testings, including analysis of the mtDNA. Audiological evaluation consisted of measurements of pure-tone and speech audiometry, tympanometry, and acoustic refle- threshold testing, auditory brainstem response, and evoked as well as distortion-product otoacoustic emissions. RESULTS: A sensorineural hearing loss was identified in 12 children. Three of these were diagnosed as having classic Kearns-Sayre syndrome; five as having multisystem KSS; two as having the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); one as having KSS-MELAS overlap syndrome; and one as having Friedreich ataxia. Longitudinal testing was performed in seven children, and in all of them a progression of the hearing loss could be demonstrated. Audiological test results in all 12 children suggested cochlear as well as retrocochlear origin of the hearing loss presenting independently from the severity of hearing impairment. No correlation between the characteristics and degrees of hearing loss and the number and severity of clinical neurological symptoms could be found. CONCLUSIONS: The present study demonstrated a high incidence (42%) of sensorineural hearing loss in children with mitochondrial encephalomyopathies. The progressive nature of the hearing impairment was confirmed by a significant correlation between the duration in years and severity of hearing loss in the children. The hearing loss does not have a prognostic value for the progression of the disorder. Based on our findings, we recommend regular audiometric examinations in patients with mitochondrial disorders.
2001
Zwirner P; Wilichowski E
Laryngoscope
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).
Journal Article
<a href="http://doi.org/10.1097/00005537-200103000-00024" target="_blank" rel="noreferrer">10.1097/00005537-200103000-00024</a>