Academic journal article Genetic Counseling

SLEEP PROBLEMS IN INDIVIDUALS WITH 11q TERMINAL DELETION DISORDER (JACOBSEN SYNDROME)

Academic journal article Genetic Counseling

SLEEP PROBLEMS IN INDIVIDUALS WITH 11q TERMINAL DELETION DISORDER (JACOBSEN SYNDROME)

Article excerpt

Summary: Sleep problems in individuals with 11q terminal deletion disorder (Jacobsen syndrome): Characteristics of sleep and sleep problems were investigated in 43 individuals with 11q terminal deletion disorder (Jacobsen syndrome). Data were collected using a sleep questionnaire. Ten individuals (23%) had a sleep problem. Settling problems, frequent night waking and early waking occurred in 2 (4%), 7 (16%) and 2 (6%) individuals, respectively. Twenty-two individuals (54%) had a history of sleep problems. Twenty-five individuals (60%) showed restless sleep and 23 individuals (54%) slept in an unusual position. Apart from frequent coughs, no significant relationships were found between the presence of a sleep problem and other variables, such as age, level of ID, breathing problems, heart defects, constipation, daytime activity and behavioral diagnosis, restless sleep and sleeping in an unusual positions.

Key-words: 11q terminal deletion disorder - Jacobsen syndrome - Sleep problems - Sleep questionnaire.

INTRODUCTION

11q terminal deletion disorder (Jacobsen syndrome) is a rare genetic disorder, caused by a terminal deletion in the long arm of chromosome 11. It is characterized by psychomotor retardation, congenital heart defects, blood dyscrasias (Paris-Trousseau syndrome) and craniofacial anomalies. Seizures are uncommon in this syndrome. Cognitive level in individuals with Jacobsen syndrome usually ranges from near normal intelligence to moderate intellectual disability (see e.g. Grossfeld et al. (6)).

Sleep problems may be part of genetic syndromes associated with intellectual disability. Compared to matched controls, prevalence of specific sleep problems has been found to be higher among individuals with a genetic disorder than in those without a disorder. A relatively high prevalence of sleep problems were found in Down, fragile-X, Smith-Magenis, Prader-Willi, Angelman and Rett syndrome (e.g. 2-4, 7, 9-11). Little is known about the characteristics of sleep or the frequency of sleep problems in Jacobsen syndrome. Our knowledge on sleep problems in individuals with Jacobsen syndrome is primarily based on anecdotal information and clinical experience, suggesting that sleep problems in individuals with Jacobsen syndrome may be prevalent. Furthermore, it is not known what other neurocognitive and/or medical problems may be associated with sleep problems in these patients. To date, no study has been performed that characterizes sleep and sleep problems in individuals with Jacobsen syndrome, and factors that may be related to sleep problems in this group. Therefore, in the present study, (a) characteristics of sleep and sleep problems were investigated in a relatively large sample (N = 43) of individuals with Jacobsen syndrome, (b) parental management with their child's sleep problem was investigated, and (c) relationships between the presence of a sleep problem and other variables (e.g., age, level of intellectual disability and medical problems) were explored.

METHOD

PARTICIPANTS AND PROCEDURE

A standardized sleep questionnaire (see Sleep Questionnaire) was sent to parents who were members of the American 11q Research and Resource Group. Only individuals with a terminal deletion at chromosome 11q (Jacobsen syndrome) and who were living at home with their parents were included. Parents were asked to complete the Sleep Questionnaire.

MATERIALS

Sleep Questionnaire

The Sleep Questionnaire was adapted from Wiggs and Stores (14), Didden, Korzilius, Van Aperlo, Van Overloop and De Vries (5) and Didden et al. (4) and consisted of five parts. Part one addresses demographic information (e.g., presence of seizure disorder and heart defect). The second part covers current (i.e. last three months) behaviors related to settling to sleep, night waking and early waking. Questions about frequency of occurrence (e.g., "How often does your child wake in the night? …

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