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

Endemic cretinism is the most severe manifestation of dietary iodine deficiency. Two forms of the syndrome are traditionally described: neurological and myxoedematous. Although this classification highlights the important neurological sequelae of the disorder it implies that myxoedematous cretins have an alternative mechanism. Further, the nature of the neurological deficit associated with both types of endemic cretinism has received scant attention in recent times considering that it remains a common disorder in many parts of the world. The nature and extent of the neurological deficit found in endemic cretinism was investigated in 104 cretins from a predominantly myxoedematous endemia in western China and in 35 cretins from central Java, Indonesia, a predominantly neurological endemia. We found a similar pattern of neurological involvement in nearly all cretins from both endemias, regardless of type (myxoedematous or neurological), and of current thyroid function. Hallmarks of the neurological features included mental retardation, pyramidal signs in a proximal distribution and extrapyramidal signs. Many patients exhibited a characteristic gait. This probably reflected pyramidal and extrapyramidal dysfunction, although joint laxity and deformity were important contributing factors. Other frequently encountered clinical features were squint, deafness, and primitive reflexes. Cerebral computerized tomography (CT) revealed basal ganglia calcification in 15 of 50 subjects. The presence of basal ganglia calcification was confined to cretins with severe hypothyroidism. Otherwise, cerebral CT scanning demonstrated only minor abnormalities which did not contribute to the localization of the clinical deficits. We conclude that the same neurological disorder is present in both types of endemic cretinism reflecting a diffuse insult to the developing fetal nervous system. These clinical findings support the concept of maternal and fetal hypothyroxinaemia, arising from severe iodine deficiency, as the primary pathophysiological event in endemic cretinism. Differences between the two types of cretinism may be explained by continuing postnatal thyroid hormone deficiency in the myxoedematous type, which results in impaired growth, skeletal retardation and sexual immaturity.
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PMID:The neurology of endemic cretinism. A study of two endemias. 204 52

Variable angle strabismus can be inward (esotropy) or outward (exotropy) or vary from esotropy to exotropy. Mental retardation has been found to be related to strabismus in 50% or more of the cases and 35% of these had variable angle strabismus. A total of 61 patients with variable angle strabismus were studied finding 55.7% with esotropy, 36% exotropy and 8.2% varying from esotropy to exotropy. Of those under study, 64% were females and 77% under five years old. No accommodative factors were found in any of the patients. The best results were obtained through surgery (recession plus Faden) previous rehabilitation.
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PMID:[Variable angle strabismus and its relation to poor vision and psychomotor retardation]. 209 36

We report on an Arabic sibship originating from Morocco in which four children manifest an undiagnosed sublethal multiple congenital anomaly/mental retardation (MCA/MR) syndrome of intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, telecanthus or true hypertelorism with squint, flat face, unusual hooked nose, very narrow mouth, retrognathia, and extremely severe neurologic impairment. One child was stillborn. Three others died in a cachectic state during their second year. One child had a severe cerebral malformation compatible with semilobar holoprosencephaly. Other inconstant manifestations are anterior chamber cleavage defect, preaxial polydactyly of feet, interventricular septal defect, and atresia of the external auditory meatus. Autosomal recessive inheritance is likely.
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PMID:Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs. 224 28

An ophthalmological study was conducted on a series of 28 Swedish children suffering from mild mental retardation without an obvious aetiological diagnosis. The eye examination supported a diagnosis of foetal alcohol syndrome in five out of six suspected cases and revealed two additional not previously suspected (25%). Eye anomalies were observed in 16 patients (57%) with fundus abnormalities (optic nerve hypoplasia, retinal dystrophy) being most frequent, occurring in 11 cases (39%). Four patients had substantially reduced visual acuity in both eyes. Eight children had abnormal features of the face and outer eye region. Ocular motility disturbances (strabismus or nystagmus) were seen in five patients. The ophthalmological study disclosed that at least 10% of this group of children with mild mental retardation suffered from the foetal alcohol syndrome. It is concluded that, in children with mental retardation, an ocular examination is a valuable diagnostic tool for revealing prenatal origin.
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PMID:Contribution of ocular examination to the diagnosis of foetal alcohol syndrome in mentally retarded children. 226 51

Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from recombination within the inserted segment of a dir ins(7;17)(q34;q23.1q25.3)mat. All three cases had a number of the already recorded manifestations of partial trisomy 7q, namely strabismus, low set ears, depressed nasal bridge, small nose, hypotonia, and mental retardation.
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PMID:Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7. 231 77

Cornelia de Lange Syndrome (CDLS) is characterized by mental retardation, growth retardation, skeletal anomalies, and a characteristic facies. We examined 22 children with CDLS to ascertain the relative frequencies of oculofacial and ophthalmologic abnormalities. We confirm prior reports of the frequent findings of brow hypertrichosis, synophrys, and long arcuate eyelashes. In addition we documented the association with ptosis, nystagmus, and high myopia. Contrary to previous reports, we did not find blue sclera or corneal, pupillary, or retinal disorders to be part of this syndrome. Hypertelorism and telecanthus were found, but they were dependent on the method of calculation. Two children had optic nerve pallor. We also report the new findings of poor macular reflex, chin lifts induced by ptosis, hypertropia, and nasolacrimal duct fistula.
J Pediatr Ophthalmol Strabismus
PMID:Ophthalmologic findings in the Cornelia de Lange syndrome. 234 18

A retrospective study was made of 16 premature infants who were visually inattentive despite normal eye findings and a lack of factors predisposing them to cerebral blindness. A comparison of this study group with other premature infants who were visually attentive revealed a much greater incidence of upper motor neuron disease and mental retardation in the study infants.
J Pediatr Ophthalmol Strabismus
PMID:The visually inattentive preterm infant. 239 20

The long-term outcome of infantile hydrocephalus (IH) in children born at term during a period of active shunt treatment was studied in a population-based survey. The series consisted of 68 children greater than or equal to 6 years old and born in 1967-78 in the south-western Swedish health care region. The clinical follow-up included neuro-paediatric assessment, Stott's test of motor impairment, the WISC test, CT and EEG analyses. Nineteen of the 68 children (28%) had cerebral palsy, 17 (25%) minor motor dysfunction and 32 (47%) no motor dysfunction; mental retardation was present in 26 (38%), 16 with an IQ 50-70 and 10 with IQ less than 50; 42 children (62%) had normal intelligence and epilepsy was found in 15 (22%). Compared with a non-shunted IH series from the 1950s, the survival of IH children had considerably increased. Of constituents characterizing the IH syndrome from the time prior to shunting, ataxia, divergent squint and the special "Cocktail-party behaviour" had significantly decreased, all of which conditions are highly related to chronic expansion of the ventricular system. The frequencies of other impairments such as mental retardation and epilepsy were fairly similar, reflecting the present increased survival of IH children with primarily non-IH-dependent brain damage. IH children with associated brain parenchymal defects had the poorest outcome, and those without had in general a much more favourable one. Thus the single most important factor for the outcome of IH was found to be the presence or absence of associated primary brain damage or maldevelopment.
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PMID:Epidemiology of infantile hydrocephalus in Sweden: a clinical follow-up study in children born at term. 246 73

Cerebral palsy is a permanent and non-progressive brain damage due to various causes affecting a child from the intrauterine life up to the first two years of life. Its most common cause is neonatal hypoxic encephalopathy. The cerebral damage is diffuse so that it is commonly associated with epilepsy, mental retardation, dysarthria, hearing loss and oculomotor abnormalities. Strabismus is found in 50% of children with cerebral palsy. This prevalence is significantly different from the 2% incidence of oculomotor abnormalities in the pre-school age, it is noteworthy that strabismus and refractive errors respond to the classical therapeutic measures.
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PMID:[Physiopathology of ocular movements in infantile cerebral paralysis]. 270 64

The main features of Rubinstein-Taybi syndrome include special facial appearance, broad thumbs, great toes and mental retardation. This syndrome presents many organogenetic and systemic deformities and various congenital ocular abnormalities, such as epicanthus, antimogoloid palpebral fissures, highly arched eyebrows, long eyelashes, obstruction of nasolacrimal ducts, strabismus and iris coloboma. In this paper we report three children with Rubinstein-Taybi syndrome with the above systemic and ocular clinical findings, and think that the lacrimal abnormality should not be overlooked in this syndrome. We brief discuss the genetics of this syndrome and suggest that the search for minimal chromosomal defects by high resolution technique might be useful for etiologic and genetic research.
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PMID:[Rubinstein-Taybi syndrome--a report of three cases]. 270 81


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