Document Detail


Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
MedLine Citation:
PMID:  23151060     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
AIM: In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little is known in patients with CDKL5 mutations.
METHOD: In four genetically confirmed female patients with CDKL5 mutations (age range 2-15 y), the presence of breathing and sleep abnormalities was evaluated using the validated Sleep Disturbance Scale for Children and polysomnography (PSG).
RESULTS: The Sleep Disturbance Scale for Children indicated disorders of initiating and maintaining sleep, daytime somnolence, and sleep breathing disorders. In one patient, PSG showed central apnoeas during sleep: her total apnoea-hypopnoea index (AHI) was 4.9, of which the central AHI was 3.4/h. When awake, central apnoeas were present in two of the four female children (central AHI 28/h and 41/h respectively), all preceded by hyperventilation. PSG showed low rapid eye movement (REM) sleep (9.7-18.3%), frequent awakenings, and low sleep efficiency (range 59-78%).
INTERPRETATION: Episodic hyperventilation followed by central apnoeas was present while awake in two of four patients. This may indicate failure of brainstem respiratory centres. In addition, low REM sleep, frequent arousals (not caused by apnoeas/seizures), and low sleep efficiency were present. Similar to Rett syndrome, in patients with CDKL5 mutations PSG seems warranted to evaluate breathing and sleep disturbances.
Authors:
Eveline E O Hagebeuk; Renilde A S van den Bossche; Al W de Weerd
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-11-14
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  55     ISSN:  1469-8749     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  2013 May 
Date Detail:
Created Date:  2013-04-11     Completed Date:  2013-05-30     Revised Date:  2013-07-26    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  480-4     Citation Subset:  IM    
Copyright Information:
© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.
Affiliation:
Pediatric Department, Stichting Epilepsie Instellingen, Zwolle, The Netherlands. ehagebeuk@sein.nl
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Child, Preschool
Female
Humans
Mutation / genetics*
Polysomnography
Protein-Serine-Threonine Kinases / genetics*
Rett Syndrome / complications*,  genetics*
Sleep Apnea Syndromes / diagnosis,  etiology*
Chemical
Reg. No./Substance:
EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.22/CDKL5 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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