Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The parents of 150 children and adolescents, evaluated at a university psychiatry outpatient clinic and a mental health center, were surveyed to determine the frequency of various sleep-related behaviors. This clinic sample was compared with a nonclinic sample of 309 subjects from the general population. A significantly higher incidence of restless sleep, limb movements, nightmares, night terrors, reluctance going to sleep, sleeping with others, fear of dying, fears of dark, and daytime overactivity differentiated the clinic population from the nonclinic population. There were no significant differences in the frequencies of sleep behaviors in the clinic sample due to chronic ear-nose-throat (ENT) problems, sex, or social class. However, bedwetting, sleeping with others, bedtime rituals, need for security objects, fears of the dark, and daytime overactivity were significantly more frequent in the younger age population. Nightmares and restless sleep were more likely to occur in patients having anxiety-affective disorder or conduct disorder DSM III diagnosis, as compared to clinic patients without psychiatric diagnoses. Patients with mental retardation were more likely to experience fears of the dark. A significantly greater number of patients with attention deficit disorder manifested problems with snoring, head banging, restless sleep, and nighttime awakening. There appeared to be an association between chronic ENT problems and daytime overactivity.
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PMID:Sleep behaviors and disorders in children and adolescents evaluated at psychiatric clinics. 660 35

Disorders of breathing related to sleep are relatively newly recognized and less than fully understood. This review presents the terminology used to describe them, and describes the physiology of sleep and the control of ventilation, the pathophysiology of breathing disorders during sleep, their various clinical manifestations, current diagnostic techniques, and the treatment modalities available at present. Among the diagnostic approaches discussed are airway fluoroscopy during sleep, pneumography, and polysomnography. Approaches to medical and surgical management of these disorders are reviewed. Speculation regarding the underestimation of the prevalence of these disorders, the male predominance, and their relationship to snoring, coronary artery disease, and hypertension, which also show male predominance, are presented. Also suggested is a relationship of sleep apnea, obesity, and mental retardation in childhood-onset or congenital disorders such as Down's syndrome and Prader-Willi syndrome, and in other endocrine dysfunction diseases.
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PMID:Sleep-related breathing disorders. 702 76

The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, small stature, and mental retardation. Obstructive sleep apnea (OSA), has been described in several facial or skeletal malformations, but never in the Rubinstein-Taybi syndrome. We studied a 9-year-old boy, previously diagnosed as having the Rubinstein-Taybi syndrome and affected by severe OSA, as documented by polysomnography. He manifested the habitual and heavy snoring with breathing difficulties at night, and excessive daytime sleepiness. Short neck and obesity were important factors for the severity of the syndrome. Continuous positive airway pressure was not tolerated and weight loss was the only possible treatment, as upper airway surgery was not indicated by cephalometric, otolaryngologic or clinical results.
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PMID:Obstructive sleep apnea in the Rubinstein-Taybi syndrome. 834 55

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Although the physical and molecular genetic features of SMS are increasingly well understood, work is more limited on SMS's behavioral phenotype, which includes self-injury, tantrums, and sleep disturbance. This study examines the sleep behaviors of 39 individuals with SMS, ranging in age from 1.6 to 32 years (mean = 10.5). Prominent sleep problems, seen in 65 to 100% of the sample, included difficulties falling asleep, shortened sleep cycles, frequent and prolonged nocturnal awakenings, excessive daytime sleepiness, daytime napping, snoring, and bed-wetting. Medication to facilitate sleep was used by 59% of SMS subjects. Possible etiologic mechanisms of sleep disturbance in SMS are discussed, as are recommended interventions.
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PMID:Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). 961 60

Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental delay, speech delay, structural brain anomalies, hypotonicity, protuberant eyes, visual problems, laryngomalacia and snoring. Since the first description in 2014, fewer than 50 patients with Xia-Gibbs syndrome have been noticed in the literature. We describe here 2 years 2 months old girl with developmental delay, brain anomalies, laryngomalacia and craniosynostosis. Whole-Exome Sequencing (WES) analyses in patient showed a heterozygous NM_001029882: c.4370 A>G; p. (Asp1457Gly) mutation in AHDC1. Craniosynostosis rarely observed in the patients described to date, and west syndrome-like EEG pattern, constipation and electrolyte imbalance observed for the first time were present in our patient. Further reports and in-vivo/in-vitro works will make possible knowing of the genetic and clinical background of this disease.
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PMID:Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. 3085 58