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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a case of extensive verrucous epidermal naevus of the face in a 15 year old Senegalese boy. This is the second reported case in Western Africa following the case presented to the French Language African Medical Society in 1984 (B. Ndiaye). The skin lesion in the form of a naevus of variable dimensions is an essential manifestation of the epidermal naevus syndrome described by Solomon, Fretzin and Dewald in 1968. This syndrome consists of a variable but inconstant association of dysembryoplastic abnormalities affecting the central nervous system (epilepsy, mental retardation, hydrocephalus, localized central deficits), the eye (fibrous conjunctival tumours, corneal opacities, colobomas) and the bones (spine, clavicle, pelvis, limb bones). The bones may be affected by malformations or hypoplasia. The epidermal naevus generally has a linear verrucous appearance, but it is not exceptional to find Jadassohn's sebaceous naevus or even localized erythroderma ichthyosiformis. Mucosal lesions, especially oral, well described in 1960 by Brown and Gorlin, correspond to a particular localization of epidermal naevus and must be differentiated histologically from white sponge naevus, which has a fairly similar clinical appearance. This non-hereditary disease must be systematically investigated looking for visceral abnormalities which are very common. Lastly, in terms of therapy, surgery may be justified when the facial lesions are unsightly, extensive or disabling. Various techniques may be applied depending on the extent and the site of these naevi.
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PMID:[Verrucous epidermal nevus of the face]. 171 8

Congenital muscular dystrophy (CMD) associated with cerebro-ocular dysplasia named muscle-eye-brain disease (MEB-D) is described in two sisters. Progressive hypotonia, mental retardation and severe visual failure appeared immediately after birth. Pathological examination demonstrated muscular dystrophy, hydrocephalus, type II lissencephaly and defective eye development of foetal origin. The great similarity of the clinical and neuropathological picture of both sisters is in agreement with an autosomal recessive inheritance. Neuropathological distinction between Fukuyama-CMD and MEB-D is a more severe and earlier cerebral developmental defect and the association with ocular dysplasia in MEB-D.
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PMID:Neuropathological findings in muscle-eye-brain disease (MEB-D). Neuropathological delineation of MEB-D from congenital muscular dystrophy of the Fukuyama type. 179 64

More than 30,000 Norwegians are mentally retarded and about 50% of them are severely retarded and often multihandicapped. Before 1975 the majority of the severely retarded resided in large institutions. New legislation has led to an increasing emphasis on decentralization and integration in local communities. Mental retardation is caused by prenatal brain damage in 90% of the cases. Chromosomal aberrations like Down and Fragile-X syndromes are the most common causes. A high proportion of individuals with autism, cerebral palsy, epilepsy and sensory defects are mentally retarded, and the most common additional diagnoses in mental retardation are speech defects, epilepsy, cerebral palsy, congenital heart disease, sight and hearing impairment and hydrocephalus. Almost 1/3 of the mentally retarded adults have developed psychiatric disturbances. Families with mentally retarded children are affected emotionally, socially and economically, and the burden increases as the mentally retarded individual grows older.
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PMID:[The mentally retarded dental patients. Who are they?]. 183 92

The purpose of this cohort study was to determine the incidence of and risk factors for major neurodevelopmental impairments among survivors of extreme prematurity. The study cohort comprised 100 infants born between 24 and 28 weeks of gestational age at one tertiary center from 1983 to 1984. Twenty-five infants (25%) died; 75 (75%) survived until follow-up (mean, 60 months). Standardized neurodevelopmental and psychometric assessments were performed in blind fashion on 68 of the 75 surviving children (91% follow-up). Informal assessments (parent, teacher, and physician reports) were obtained instead for seven (9%) children who had relocated outside of the area. Overall, 19 children (25%) had one or more major impairments: mental retardation, 9; cerebral palsy, 4; multiple impairments, 5; and blindness, 1. Despite a high prevalence of impairments, 95% of children (n = 71) were functionally independent [corrected]. Special educational resources were definitely necessary for seven (9%) and possibly needed for 36 (48%) additional children. Univariate analyses revealed four significant risk factors for cerebral palsy: hydrocephalus (relative risk = 12.2), grades III and IV intraventricular hemorrhage (relative risk = 5.8), 5-minute Apgar score lower than 7 (relative risk = 5.7), and bronchopulmonary dysplasia (relative risk = 5.5). Hydrocephalus was the only significant risk factor observed for mental retardation (relative risk = 5.4). Risk factors predicting a need for special education resources included sepsis (relative risk = 24.9), low socioeconomic status (relative risk = 16.3), and nonwhite race (relative risk = 3.0). Thus our data suggest that biomedical factors appear to confer the greatest risk of major impairments; sociodemographic factors appear to have a significant impact on educational risk in extremely premature infants who do not die. Continued follow-up with biomedical and developmental-social interventions appears warranted to decrease the risk of educational underachievement in this population.
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PMID:Risk factors for major neurodevelopmental impairments and need for special education resources in extremely premature infants. 191 94

A combined retrospective and prospective study was designed to determine the incidence of seizures in 140 children with myelomeningocele, as well as the potential for seizure control and remission. The incidence of seizures in 109 patients with myelomeningocele and hydrocephalus was 16.5 per cent, and 19.4 per cent in a further 31 patients without hydrocephalus. Mental retardation, often in combination with cerebral malformations, was significantly more common in children with seizures, regardless of presence or absence of hydrocephalus. Of the 24 patients with convulsion, three-quarters had anti-epileptic medication discontinued, without recurrence of seizures. An additional five children's seizures are well controlled with medication. Mental retardation was the only significant predictor of long-term outcome. These results indicate that children with myelomeningocele have an excellent prognosis for seizure control and subsequent remission off medication.
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PMID:Prognosis for seizure control and remission in children with myelomeningocele. 193 32

X-linked recessive hydrocephalus (HSAS) occurs at a frequency of approximately 1 per 30,000 male births and consists of hydrocephalus, stenosis of the aqueduct of Sylvius, mental retardation, spastic paraparesis, and clasped thumbs. Prenatal diagnosis of affected males by ultrasonographic detection of hydrocephalus is unreliable because hydrocephalus may be absent antenatally. Furthermore, carrier detection in females is not possible because they are asymptomatic. Using four families segregating HSAS, we performed linkage analysis with a panel of X-linked probes that detect restriction fragment length polymorphisms. We report here that HSAS, in all tested families, is closely linked to marker loci mapping in Xq28 (DXS52, lod = 6.52 at theta of 0.03; F8, lod = 4.32 at theta of 0.00; DXS15, lod = 3.40 at theta of 0.00). These data assign HSAS to the gene-dense chromosomal band Xq28 and allow for both prenatal diagnosis and carrier detection by linkage analysis.
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PMID:Assignment of X-linked hydrocephalus to Xq28 by linkage analysis. 197 56

During the period from 25 October 1988 to 13 June 1989, 624 (13.9%) of the 4,464 outpatients examined in the pediatric department, Haukeland hospital, had neurological problems. In 1986 730 (19.1%) of the 3,829 patients admitted to the pediatric department of nerological disorders. 41 (11%) of the 374 patients admitted to the department of neonatology in 1986 had disorders of the central nervous system (infections excepted). About 40% of the neurological patients suffered from convulsive disorders. Other groups of disorders were developmental retardation, learning disorders, cerebral palsy, mental retardation, hyperactivity, headache, infections and parainfectious diseases, intracranial tumours, hydrocephalus, spina bifida, chromosomal disorders, metabolic diseases, various syndromes and malformations, neuromuscular disorders, functional symptoms and neonatal neurological problems. The practice of child neurology is timeconsuming. The paediatric neurologist must be acquainted with children's developmental problems and the patterns of neurological symptoms seen in the various age groups. Assembling children with neurological disorders in a small, special department might improve the treatment of these patients considerably.
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PMID:[Child neurology in a regional hospital]. 204 29

From a population-based series of children with Infantile Hydrocephalus (IH) 69 patients (mean age 11.7 years) were examined with respect to the occurrence of autistic symptoms. Autistic symptomatology was evaluated according to a modified short Swedish version of the so-called Autism Behavior Checklist. Sixteen of the 69 IH children (23%) reached a score which was considered indicative of autistic symptoms (AS) in the child. This group was compared with the remaining 53 IH children without autistic symptoms (non AS). Significant differences were found between these two groups with respect to aetiological and clinical data. In the AS group 44% were born preterm as compared to 9% in the non AS group. CT scan showed major abnormalities in 64% of the AS children while this was present in 28% in the non AS group. The occurrence of major neuroimpairments--epilepsy, mental retardation and cerebral palsy--was 50%, 88% and 50% in the AS group as compared to 9%, 23% and 19% respectively in the non AS group. It was concluded that the more severe the brain damage in children with IH the more likely that autistic symptomatology would ensue. This implies that specific neuropsychiatric services to these families are required.
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PMID:Autistic symptoms in children with infantile hydrocephalus. 205 95

This is a study of 6 patients of cloverleaf skull (CLS) who were treated between 1980 and 1988. All of them had mild to severe degree of craniofacial dysostosis of Crouzon type with variable degrees of exorbitism (pseudoexophthalmus), raised intracranial pressure and mental retardation. All except one patient had maternal H O fever and/or drug intake during the first trimester or toxaemia of pregnancy. The skull X-ray showed typical CLS with expanded middle cranial fossa, foreshortened anterior and posterior fossae and honey-comb appearance in the occiput. Preoperative CT scan revealed generalized hydrocephalus in older patients but only cystic dilatation of the temporal horns in younger infants. The best treatment results were observed in the youngest infant, 7 weeks old, following morcellation cranioplasty, duroplasty, orbital decompression and delayed V.P. Shunt. Fronto-orbital advancement procedure gave satisfactory results in older infants except in those with severe craniofacial stenosis. A delayed CSF shunt is only indicated for progressive postoperative hydrocephalus. Immediate survival was 100% and late 50%. The deaths were due to complications of hydrocephalus. Survival was better in those having less severe Crouzon Syndrome irrespective of the type of surgical treatment. However, timely CSF shunt surgery played an important role in the long term survival, improvement of I.Q., and ultimate shape of head. The study suggests that CLS is a severe malformation of Crouzons disease due to teratogenic damage in the first trimester of pregnancy causing developmental aberration of primary mesenchyme of the neurocranial capsule and base of the skull. The cystic dilatation of the temporal horns is the earliest sign of hydrocephalus and occurs secondary to disturbed growth of the cerebral capsule.
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PMID:Cloverleaf skull--a severe form of Crouzon's syndrome: a new concept in aetiology. 205 26

Orofaciodigital syndrome type I (OFD I) includes striking orodental, facial, digital, renal, and central nervous system (CNS) abnormalities. Frequently associated with mental retardation, OFD I is inherited as an X-linked dominant trait, lethal in males. Here, we report the variable expressivity of OFD I in 6 black U.S. females and review findings in 2 previously reported black patients. Only these 8 of over 160 reported cases involve blacks. Abnormalities observed in black patients are similar to those observed in whites, but with specific differences. Only 25% of the blacks had cleft palate and none was observed with midline cleft of the upper lip. Among whites, 80% have cleft palate and 45% midline cleft of the upper lip. These findings suggest that racial genetic factors may protect lip and palate development in blacks, even in the presence of the OFD I gene. CNS abnormalities, including agenesis of the corpus callosum, hydrocephaly, cystic brain lesions, seizures, and mental retardation, were present in 50% of our the cases. This figure is greater than previously reported. Polycystic kidneys were present in 3 of our patients. Including a previously reported patient, 50% of the black OFD I patients show polycystic kidneys. Hyperplastic and supernumerary frenula, with or without brachydactyly, have been shown to be strong diagnostic criteria in our patients. New findings reported here include intracranial berry aneurysm, periodontal disease, and lip pits. Clinicians treating these patients should be aware of the pleiotropic manifestations of the syndrome, which may include renal and CNS anomalies. Ultrasonic and computed tomography scan studies are indicated in patients diagnosed with OFD I.
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PMID:Variability of expression of the orofaciodigital syndrome type I in black females: six cases. 206 2


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