Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene.
Dev Med Child Neurol
; 55(5): 480-4, 2013 May.
Article
en En
| MEDLINE
| ID: mdl-23151060
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndromes de la Apnea del Sueño
/
Síndrome de Rett
/
Proteínas Serina-Treonina Quinasas
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Dev Med Child Neurol
Año:
2013
Tipo del documento:
Article
País de afiliación:
Países Bajos
Pais de publicación:
Reino Unido