Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.
Data Collection; Physicians; Humans; Behavior Therapy; Mucopolysaccharidosis III/complications; Sleep Disorders/complications; Sleep Disorders/drug therapy; Sleep Disorders/therapy; NET Files; sleep disturbance/disorders; MPS III; trajectory; characteristics
Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the management of individuals with mucopolysaccharidoses. We found that sleep problems are almost universal in this patient population and that no one treatment is consistently viewed as beneficial. Among the clinicians surveyed, melatonin is reported as the medication most likely to be of benefit. Benzodiazepines, chloral hydrate, antihistamines and antipsychotic agents are overall reported as less efficacious. The major side-effect of the medications as a group was reported to be daytime somnolence. Based on this study, recommendations are given regarding the approach to sleep disturbance in Sanfilippo syndrome.
Fraser J; Wraith JE; Delatycki MB
Clinical Genetics
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/10.1034/j.1399-0004.2002.620512.x" target="_blank" rel="noreferrer noopener">10.1034/j.1399-0004.2002.620512.x</a>
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
Treatment Outcome; Infant Newborn; Humans; Adolescent; Child Preschool; Infant; Questionnaires; Age of Onset; Incidence; Behavior Therapy; Melatonin/therapeutic use; Mucopolysaccharidosis III/psychology; Sleep Disorders/epidemiology/etiology/therapy; Q3 Literature Search; child; adult; Adolescent; Adult; Age of Onset; Behavior Therapy; Child; Preschool; Humans; Incidence; Infant; sleep disturbance/disorders; MPS III; trajectory; characteristics; melatonin; benzodiazepines
AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the USA. Questionnaires were sent by mail and were answered anonymously. Identical questions regarding sleep disturbance were asked about unaffected siblings to provide control data. Sleep disturbance was quantified by a total sleep disturbance score. RESULTS: A total of 141 responses were received; 91.5% of children with Sanfilippo syndrome had sleep disturbance and this was significantly higher than for their unaffected sibs; 77.5% of parents had used medication for this problem, with melatonin and antihistamines being most commonly used. Melatonin and benzodiazepines were reported as the most efficacious. Many different environmental modifications had been employed for this problem and some parents reported success with behavioural therapies. CONCLUSIONS: Sleep disturbance is common, severe, and difficult to manage in Sanfilippo syndrome. Based on the parental responses and its safety profile, melatonin is the first line drug that should be tried. Behavioural therapy should be tried in all with Sanfilippo syndrome and sleep disturbance.
Fraser J; Gason A A; Wraith J E; Delatycki M B
Archives of Disease in Childhood
2005
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/10.1136/adc.2004.065482" target="_blank" rel="noreferrer noopener">10.1136/adc.2004.065482</a>
Cognitive abilities of patients with Lesch-Nyhan disease
Male; Child; Humans; Adult; Adolescent; Female; Child Preschool; Social Environment; Combined Modality Therapy; Social Adjustment; Social Behavior; Behavior Therapy; Awareness; Intelligence; Neuropsychological Tests; Achievement; Lesch-Nyhan Syndrome/di [Diagnosis]; Intellectual Disability/di [Diagnosis]; Intellectual Disability/px [Psychology]; Intellectual Disability/th [Therapy]; Language Development Disorders/di [Diagnosis]; Language Development Disorders/px [Psychology]; Language Development Disorders/th [Therapy]; Lesch-Nyhan Syndrome/px [Psychology]; Lesch-Nyhan Syndrome/th [Therapy]; Self-Injurious Behavior/di [Diagnosis]; Self-Injurious Behavior/px [Psychology]; Self-Injurious Behavior/th [Therapy]; Thinking; alertness; behavioral; Lesch-Nyhan syndrome; trajectory; characteristics; attempted suicide; suicide
Parents of 42 patients with Lesch-Nyhan disease completed a questionnaire systematizing caregiver observations of the subject's behavior during a wide variety of daily events. Responses were grouped in nine categories reflecting different aspects of cognitive skills. Only 1 boy appears to have any significant generalized cognitive impairment. The patients' memory for both recent and past events is excellent, their emotional life has a normal range of reactions and is appropriate; they have good concentration, are capable of abstract reasoning, have good self-awareness, and are highly social. However, they are behind in academic ability, with only 15% at grade level for math and reading. Implications for designing educational activities, parenting or caregiver strategies, and research methodology are discussed.
Anderson L T; Ernst M; Davis S V
Journal of Autism and Developmental Disorders
1992
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/bf01058150" target="_blank" rel="noreferrer noopener">10.1007/bf01058150</a>
Adjustment to chronic pain: the role of pain acceptance, coping strategies, and pain-related cognitions
Female; Humans; Male; Pain; Adult; Chronic disease; Aged; Middle Aged; Culture; Sick Role; Sex Factors; Activities of Daily Living; Depression; Internal-External Control; Psychometrics; Personality Inventory; Anxiety; Behavior Therapy; Adaptation; Psychological; Models; Statistical; Helplessness; Learned; Software; Mathematical Computing
BACKGROUND: Previous research has found that acceptance of pain is more successful than coping variables in predicting adjustment to pain. PURPOSE: To compare the influence of acceptance, pain-related cognitions and coping in adjustment to chronic pain. METHODS: One hundred seventeen chronic pain patients attending the Clinical Pain Unit were administered a battery of questionnaires assessing pain acceptance, active and passive coping, pain-related cognitions, and adjustment. RESULTS: The influence of acceptance, coping, and cognition on all the adjustment variables was considered simultaneously via Structural Equation Modeling using LISREL 8.30 software. A multigroup analysis showed that the male and female samples did not significantly differ regarding path coefficients. The final model showed that acceptance of pain determined functional status and functional impairment. However, coping measures had a significant influence on measures of emotional distress. Catastrophizing self-statements significantly influenced reported pain intensity and anxiety; resourcefulness beliefs had a negative and significant influence on depression. CONCLUSIONS: These findings suggest that acceptance may play a critical role in the maintenance of functioning and, with this aim, acceptance-based treatments are promising to avoid the development of disability. They also lend support to the role of control beliefs and of active coping to maintain a positive mood. Acceptance and coping are presented as complementary approaches.
2007-04
Esteve R; Ramírez-Maestre C; López-Marínez AE
Annals Of Behavioral Medicine: A Publication Of The Society Of Behavioral Medicine
2007
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/10.1080/08836610701309724" target="_blank" rel="noreferrer">10.1080/08836610701309724</a>
Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study
Child; Humans; infant; Adult; Questionnaires; Treatment Outcome; Incidence; Behavior Therapy; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Age of Onset; Melatonin/therapeutic use; Mucopolysaccharidosis III/psychology; Sleep Disorders/epidemiology/etiology/therapy
AIMS: To determine the incidence, manifestations, and best management of sleep disturbance in Sanfilippo syndrome (mucopolysaccharidosis (MPS) type III). METHODS: Families were ascertained through the MPS societies of Australasia, the UK, and the USA. Questionnaires were sent by mail and were answered anonymously. Identical questions regarding sleep disturbance were asked about unaffected siblings to provide control data. Sleep disturbance was quantified by a total sleep disturbance score. RESULTS: A total of 141 responses were received; 91.5% of children with Sanfilippo syndrome had sleep disturbance and this was significantly higher than for their unaffected sibs; 77.5% of parents had used medication for this problem, with melatonin and antihistamines being most commonly used. Melatonin and benzodiazepines were reported as the most efficacious. Many different environmental modifications had been employed for this problem and some parents reported success with behavioural therapies. CONCLUSIONS: Sleep disturbance is common, severe, and difficult to manage in Sanfilippo syndrome. Based on the parental responses and its safety profile, melatonin is the first line drug that should be tried. Behavioural therapy should be tried in all with Sanfilippo syndrome and sleep disturbance.
2005
Fraser J; Gason AA; Wraith JE; Delatycki MB
Archives Of Disease In Childhood
2005
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/10.1136/adc.2004.065482" target="_blank" rel="noreferrer">10.1136/adc.2004.065482</a>
Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians.
Humans; Data Collection; Physicians; Behavior Therapy; Mucopolysaccharidosis III/complications; Sleep Disorders/complications; Sleep Disorders/drug therapy; Sleep Disorders/therapy
Sanfilippo syndrome (mucopolysaccharidosis type III) is the commonest mucoploysaccharidosis. It causes neurodegeneration with often profound sleep and behavioral disturbance. Management of the sleep disturbance is difficult and inconsistent. In this study, we surveyed clinicians with particular expertise in the management of individuals with mucopolysaccharidoses. We found that sleep problems are almost universal in this patient population and that no one treatment is consistently viewed as beneficial. Among the clinicians surveyed, melatonin is reported as the medication most likely to be of benefit. Benzodiazepines, chloral hydrate, antihistamines and antipsychotic agents are overall reported as less efficacious. The major side-effect of the medications as a group was reported to be daytime somnolence. Based on this study, recommendations are given regarding the approach to sleep disturbance in Sanfilippo syndrome.
2002
Fraser J; Wraith JE; Delatycki MB
Clinical Genetics
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/10.1034/j.1399-0004.2002.620512.x" target="_blank" rel="noreferrer">10.1034/j.1399-0004.2002.620512.x</a>
Risperidone in children with autism and serious behavioral problems
Child; Humans; Behavior Therapy; Antipsychotic Agents/adverse effects/therapeutic use; Autistic Disorder/therapy; Risperidone/adverse effects/therapeutic use
2002
Sandler L
The New England Journal Of Medicine
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/10.1056/NEJM200212053472316" target="_blank" rel="noreferrer">10.1056/NEJM200212053472316</a>
Systematic review and meta-analysis of randomized controlled trials of cognitive behaviour therapy and behaviour therapy for chronic pain in adults, excluding headache
Female; Humans; Male; Adult; Middle Aged; Research Design; Behavior Therapy; Non-U.S. Gov't; Research Support; Chronic disease; Cognitive Therapy; Randomized Controlled Trials; Pain/etiology/therapy; Sample Size
A computer and a hand search of the literature recovered 33 papers from which 25 trials suitable for meta-analysis were identified. We compared the effectiveness of cognitive-behavioural treatments with the waiting list control and alternative treatment control conditions. There was a great diversity of measurements which we grouped into domains representing major facets of pain. Effect sizes, corrected for measurement unreliability, were estimated for each domain. When compared with the waiting list control conditions cognitive-behavioural treatments were associated with significant effect sizes on all domains of measurement (median effect size across domains = 0.5). Comparison with alternative active treatments revealed that cognitive-behavioural treatments produced significantly greater changes for the domains of pain experience, cognitive coping and appraisal (positive coping measures), and reduced behavioural expression of pain. Differences on the following domains were not significant; mood/affect (depression and other, non-depression, measures), cognitive coping and appraisal (negative, e.g. catastrophization), and social role functioning. We conclude that active psychological treatments based on the principle of cognitive behavioural therapy are effective. We discuss the results with reference to the complexity and quality of the trials.
1999
Morley S; Eccleston C; Williams A
Pain
1999
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/s0304-3959(98)00255-3" target="_blank" rel="noreferrer">10.1016/s0304-3959(98)00255-3</a>
Behavioral Treatment of Sleep Dysfunction in Patients with the Rett Syndrome
Child Preschool; Rett Syndrome/co [Complications]; Behavior Therapy; Sleep Disorders/th [Therapy]; Sleep Disorders/et [Etiology]; NET Files; human; child; female; Behavior Therapy; Child; Preschool; Female; Humans; Rett Syndrome/co [Complications]; Sleep Wake Disorders/et [Etiology]; Sleep Wake Disorders/th [Therapy]; sleep disturbance/disorders; Rett syndrome; psychological intervention; Fading procedure
Aberrant sleep patterns are commonly experienced by girls with the Rett syndrome. In this investigation, the problematic sleep of three girls with the Rett syndrome was regulated using a bedtime fading procedure with response cost. The treatment involved systematically delaying the bedtime and utilized a response cost component, removing the child from bed for one hour, when the child did not experience short latency to sleep onset. Daytime sleep was interrupted, except during regularly scheduled naps. A fading procedure was then successfully utilized to advance the bedtimes. This treatment resulted in more regular sleep patterns for the girls by increasing appropriate nighttime sleep, reducing inappropriate daytime sleep and reducing problematic nighttime behaviors (e.g., night wakings). These preliminary findings are important because they suggest that the dysfunctional sleep patterns of girls with the Rett syndrome may be amenable to behavioral treatments.
1991
Piazza CC; Fisher W; Moser H
Brain & Development
1991
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(12)80055-6" target="_blank" rel="noreferrer noopener">10.1016/s0387-7604(12)80055-6</a>