Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Children presenting with Developmental Coordination Disorder or clumsiness often exhibit signs of minor neurological dysfunction (MND). The data of the Groningen Perinatal Project, a long-term follow-up project on the relations between prenatal and perinatal adversities and neurological, behavioral, and cognitive development revealed that two basic forms of MND can be distinguished: simple and complex MND. During school age children with simple MND are characterized by the presence of one or two dysfunctional clusters of MND, in adolescence by the presence of choreiform dyskinesia or hypotonia. Probably the major sources of origin of simple MND are genetic constitution and stress during early life. Simple MND might reflect the lower tail of the normal distribution of the quality of non-pathological brain function. In line with this hypothesis is the finding that simple MND is associatedwith only a moderately increased risk for learning- and behavioral problems. Children with complex MND present at school age with at least three dysfunctional clusters of MND, in adolescence with problems in fine manipulation or coordination. Perinatal adversities play an evident etiological role in the development of complex MND, suggesting that it might be attributed to a lesion of the brain at early age. In line with this idea is the finding that complex MND shows a strong correlation with attention and learning problems.
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PMID:Developmental coordination disorder: is clumsy motor behavior caused by a lesion of the brain at early age? 1464 Mar 6

In order to describe the physical characteristics, medical complications, and natural history of classic 7q11.23 duplication syndrome [hereafter Dup7 (MIM 609757)], reciprocal duplication of the region deleted in Williams syndrome [hereafter WS (MIM 194050)], we systematically evaluated 53 individuals aged 1.25-21.25 years and 11 affected adult relatives identified in cascade testing. In this series, 27% of probands with Dup7 had an affected parent. Seven of the 26 de novo duplications that were examined for inversions were inverted; in all seven cases one of the parents had the common inversion polymorphism of the WS region. We documented the craniofacial features of Dup7: brachycephaly, broad forehead, straight eyebrows, broad nasal tip, low insertion of the columella, short philtrum, thin upper lip, minor ear anomalies, and facial asymmetry. Approximately 30% of newborns and 50% of older children and adults had macrocephaly. Abnormalities were noted on neurological examination in 88.7% of children, while 81.6% of MRI studies showed structural abnormalities such as decreased cerebral white matter volume, cerebellar vermis hypoplasia, and ventriculomegaly. Signs of cerebellar dysfunction were found in 62.3%, hypotonia in 58.5%, Developmental Coordination Disorder in 74.2%, and Speech Sound Disorder in 82.6%. Behavior problems included anxiety disorders, ADHD, and oppositional disorders. Medical problems included seizures, 19%; growth hormone deficiency, 9.4%; patent ductus arteriosus, 15%; aortic dilation, 46.2%; chronic constipation, 66%; and structural renal anomalies, 18%. We compare these results to the WS phenotype and offer initial recommendations for medical evaluation and surveillance of individuals who have Dup7.
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PMID:7q11.23 Duplication syndrome: Physical characteristics and natural history. 2633 94