Abstract Background We use the Sleep Disturbance Scale for Children (SDSC) routinely as a tool for evaluating children's sleep quality in our pediatric neurology clinic. We analyzed at its ability to ...detect sleep disturbances distinctive to selected neurological disorders. Patients One-hundred and eighty-six children (age range 2-18 years) who were evaluated by the SDSC questionnaire were divided into three groups according to their principal diagnosis: epilepsy, attention deficit hyperactivity disorder, or others. Their responses were analyzed. Results The average frequency of abnormal total sleep score was 26.9%. The most frequent sleep disorders were excessive somnolence (25.3%), initiating and maintaining sleep (24.7%), and arousal/nightmares (23.1%). There were no significant group differences for total scores or sleep disorder–specific scores; although a sleep–wake transition disorder was more frequent among children with epilepsy (31%). A literature search revealed that the frequency of abnormal total scores in several neurological disorders (e.g., epilepsy, cerebral palsy) ranges between 20% and 30%. Conclusions The mechanism underlying sleep disturbances in many neurological disorders may be unrelated to that of the primary disease but rather originate from nonspecific or environmental factors (e.g., familial/social customs and habits, temperament, psychological parameters). Although the SDSC is noninformative for studying the effect of a specific neurological disorder on sleep, we still recommend its implementation for screening for sleep disturbances in children with neurological abnormalities.
Abstract Background The combination of microcephaly, pyramidal signs, abnormal corpus callosum, and intellectual disability presents a diagnostic challenge. We describe an autosomal recessive ...disorder characterized by microcephaly, pyramidal signs, thin corpus callosum, and intellectual disability. Methods We previously mapped the locus for this disorder to 8q23.2-q24.12; the candidate region included 22 genes. We performed Sanger sequencing of 10 candidate genes; to ensure other genes in the candidate region do not harbor mutations, we sequenced the exome of one affected individual. Results We identified two homozygous missense changes, p.Thr186Arg and p.Pro416His in TAF2, which encodes a multisubunit cofactor for TFIID-dependent RNA polymerase II–mediated transcription, in all affected individuals. Conclusions We propose that the disorder is caused by the more conserved mutation p.Thr186Arg, with the second sequence change identified, p.Pro416His, possibly further negatively affecting the function of the protein. However, it is unclear which of the two changes, or maybe both, represents the causative mutation. A single missense mutation in TAF2 in a family with microcephaly and intellectual disability was described in a large-scale study reporting on the identification of 50 novel genes. We suggest that a mutation in TAF2 can cause this syndrome.
Abstract This study sought to describe the occurrence and potential significance of white matter abnormalities of unknown cause on pediatric cranial magnetic resonance scans, and to review the ...literature. We included 16 children in whom white matter abnormalities were incidentally revealed on magnetic resonance scans performed during a 7-year period at a tertiary pediatric medical center. Background data were retrospectively collected from medical files. White matter lesions were classified by size, location, and extent. Indications for imaging included convulsive disorder (n = 5), headache (n = 5), endocrine disorder (n = 4), and others. Patients' abnormalities did not correlate with the locations and patterns of white matter lesions. No changes in lesions were evident over time. Given the absence of evident benefits from repeated imaging studies, we suggest they are not warranted in every patient, and should be tailored according to clinical course. Further investigations of incidental intracranial findings are required in this age group.
Abstract Postnatal microcephaly is defined as normal head circumference at birth, which progressively declines to more than 2 standard deviations below the average for the patient’s age and sex. We ...describe four patients from three consanguineous families of Arab Bedouin origin who presented with autosomal recessive inheritance of progressive microcephaly, spasticity, thin corpus callosum, pyramidal signs, and intellectual disability. Homozygosity mapping (Human Mapping Nsp I 250K arrays, Affymetrix, Santa Clara, CA) placed the disease locus at 8q23.2-q24.12. The candidate region includes 22 known or predicted genes, including RAD21 , which is related to the cohesion complex EIF3H , which is involved in translation initiation, and TAF2 , which may be involved in intellectual disability. Identification of the causative gene in our reported family will shed light on the pathogenesis of this severe condition.
