Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on two brothers with achalasia, adrenocortical insufficiency, alacrima, short stature, microcephaly, ataxia, optic atrophy, and developmental delay. The parents and three sibs are unaffected. Achalasia, adrenocortical insufficiency, and alacrima comprise a recently characterized familial multisystem disorder of unknown cause. Achalasia has also been described in association with microcephaly and mental retardation in one family and ataxia, optic atrophy, and mental retardation in another. The above reports and these sibs may represent variants of a single pleiotropic recessive gene. We suggest that abnormalities of the central nervous system are a manifestation of the achalasia, adrenocortical insufficiency, alacrima syndrome.
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PMID:Familial achalasia associated with adrenocortical insufficiency, alacrima, and neurological abnormalities. 356 79

Delay in language development may be associated with an underlying anatomical, neurosensory, or psychological disorder such as: deafness, cerebral palsy, cleft palate, autism, or mental retardation. A condition called specific developmental language delay may occur in children devoid of any other identifiable disorder or developmental delay. Language delay associated with early onset, severe-to-profound hearing impairment has been well documented. Controversial studies have also appeared in the communicative disorders' literature suggesting that fluctuating conductive hearing loss in early childhood can significantly affect the development of language and related academic skills. Some authors have claimed that these deleterious effects can be irreversible. This study focuses on 3 groups of preschool children, in whom hearing acuity has been documented: One group with recurrent otitis and language delay; a second group with an equally well documented otitis history but without language delay; and a third group with documented language delay in the absence of any known predisposing conditions, including early-onset, recurrent otitis media. Prenatal, birth and developmental histories of the children in each group were compared in detail to identify any factors which may enhance or ameliorate the effects of fluctuating conductive hearing loss on language development. In a population of 1864 children (ages 9-59 months) referred for otolaryngologic and/or communicative evaluation, 480 otherwise normal children (67.6% males; 32.4% females) were found to have a history of early-onset, recurrent otitis media and/or delayed speech and language development on the basis of an extensive evaluation battery. This population was further subdivided into 3 groups (I = otitis-positive/normal language; II = otitis-positive/language delay; and III = otitis-free/language delay). Among the 329 children with positive histories for early otitis media (Groups I & II), a significantly higher percentage of those demonstrating language delay were from homes in the lower socio-economic category. Race and sex showed no significant relationship to language delay among the otitis-positive groups, although males were twice as numerous as females in the over-all study population. Articulation errors on speech measures and borderline delays in other developmental milestones (standing, walking, and toilet training) were also significantly greater in the language-delayed group when compared with otitis-positive children whose language was age-appropriate.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Medical profile of the language-delayed child: otitis-prone versus otitis-free. 358 81

Cephalic neural crest cells contribute to the formation of the external and middle ears, the supporting cells of the statoacoustic ganglion, other cranial nerve components, and the face. The anlage of otic sensory structures receive inductive stimuli from adjacent rhombencephalic tissue. The complex series of interactions that guide organogenesis of the outer, middle, and inner ear structures may explain why neurologic dysfunction is likely to be associated with malformations of the ear. We reviewed the records of 100 patients with complex ear anomalies with or without hearing loss. Mean age was 4.2 years (range 1 day-27 years). Malformations, either bilateral (70) or unilateral (30), involved the external ear (94), middle ear (16), and/or inner ear (12). Eighty-five patients had neurologic dysfunction. Cranial nerve dysfunction was found in 56 patients and involved nerves VIII (39 auditory and/or vestibular), VII (22), II (11), VI (8), V (4), III (3), X (3), XII (1), and IX (1). Sixty-four patients had evidence of central nervous system dysfunction such as mental deficiency/developmental delay (44), non-paretic gait disorders (17), hypotonia (16), microcephaly (13), seizures (8), motor deficits (8), autistic features (7), and radiographically confirmed intracranial abnormalities (5). Eleven of 19 children with hypoactive vestibules had delayed motor development or poor balance. Seventy-four patients had anomalies in other organ systems: 56 craniofacial, 28 osseous, 19 cardiac, 16 genito-urinary, 14 ocular, 11 gastrointestinal, and 7 cutaneous. Sixty-one patients had syndromic conditions, 32 of them branchial arch syndromes. The level of cognitive competence was not related to severity of craniofacial, ear, or cranial nerve abnormality. Children with ear malformations deserve neurologic and pediatric evaluations in addition to an otologic work-up.
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PMID:Neurologic findings in children with ear malformations. 362 8

We identified an infant male pigtail macaque monkey with a bizarre karyotype which, to the best of our knowledge, has never before been reported in any species. Examination of 107 nuclei from cultured lymphocytes revealed 81 (75.7%) to be trisomic, but with the supernumerary chromosome varying from cell to cell, trisomy 16 being the most common. A small percentage (11.2%) of the nuclei had a normal 42,XY karyotype, and the balance, with the exception of one apparent monosomic (possibly a technical artifact), had multiple chromosome abnormalities. Examination of cultured skin fibroblasts revealed a similar karyotype. We called this karyotype a mosaic variegated trisomy. At birth, the animal had a cleft lip and palate and situs inversus of the heart. He subsequently showed significant developmental delay and apparent mental retardation. There were no clinical symptoms of hematological malignancy, which often have associated acquired chromosome abnormalities such as those described here. The animal survived for 2 yr and 8 mo under intensive care.
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PMID:Mosaic variegated trisomy (42,XY/43,XY, + variable) in a male pigtail macaque monkey. 373 82

A 4-year-old boy with a history of muscular hypotonia, mental retardation, microcephaly, and generalized convulsions was found at autopsy to have agyria, agenesis of the anterior commissure and posterior corpus callosum as well as an abnormal decussation of pyramidal tracts which descended in the spinal dorsal columns. Postmortem muscular alterations included type IIc fiber hypertrophy and type I fiber grouping, variably expressed in individual muscles and intramuscular fascicles. This may represent a developmental delay compatible with a gestational age between the 34th and 40th week. These studies also indicate the importance of examining multiple samples of postmortem muscles and muscles from patients afflicted with cerebral malformations.
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PMID:Muscular alteration in agyria with pyramidal tract anomaly. 382 54

Tuberous sclerosis (TS) is a dominantly inherited disorder characterized by seizures, developmental delay, and specific skin lesions. Hypopigmented maculae that occur in 80% of patients with TS have become important for the clinical diagnosis of TS in young children. These lesions are claimed to be present from birth, in contrast with other dermatologic manifestations of TS that usually appear much later. We studied seven children in whom hypopigmented maculae appeared months to years after repeated negative skin examinations. Our findings emphasized that the absence of hypopigmented maculae in young children does not preclude their later appearance nor rule out the diagnosis of TS. The need for repeated skin examinations in infants and children with suspected TS or with seizures and/or mental retardation of unknown cause is apparent.
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PMID:The late appearance of hypopigmented maculae in tuberous sclerosis. 397 32

In a study of 350 patients with multiple congenital contractures (arthrogryposis), 80 (23%) patients had mental retardation or were developmentally delayed. Out of that group of 80 patients, 13 (16%) were found to have abnormal karyotypes. Two of the thirteen had a family history of chromosomal abnormalities without congenital contractures, therefore, 11 patients had chromosomal anomalies which appeared to be associated with the congenital contractures. Five of the eleven (45%) had chromosome mosaicism, three of those had tissue mosaicism. Two had abnormal skin fibroblast cell lines and normal peripheral leukocyte chromosome studies and one had a normal bone marrow karyotype with abnormal peripheral leukocyte chromosome studies. Chromosome studies were done in these patients with congenital contractures because of developmental delay and multisystem involvement, or recognition of clinical features typical of a chromosomal syndrome. We recommend first lymphocyte; and if those are normal, then fibroblast studies be done on all patients with multiple joint contractures and developmental delay, particularly if unusual facial features or multisystem abnormalities are present.
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PMID:Chromosomal abnormalities associated with congenital contractures (arthrogryposis). 399 85

Serum carnosinase deficiency (McKusick 21220) is a rare condition, described in 13 cases. Ten additional individuals with serum carnosinase deficiency have been identified. All continued to excrete increased amounts of carnosine in their urine despite a meat-free diet for 3 days. Serum carnosinase activity ranged from 0-30% of normal. In four individuals a normal Km for carnosine of 0.12 mM was observed, while in five individuals an increased Km was found. Homocarnosine levels in CSF in three individuals ranged from 3.4 to 15 mM. Clinical symptoms in these individuals were as follows: attention deficit disorder: 4; non progressive developmental delay: 1; neurofibromatosis: 1; absences seizures: 1; severe, but non-progressive mental retardation, seizures and neurosensory hearing loss: 1; progressive childhood dementia; 1; clinically normal: 1. There was no correlation between severity and type of the neurological symptoms and residual serum carnosinase activity. Although a definite conclusion can only be made after a considerably higher number of individuals has been analyzed, the suspicion that serum carnosinase deficiency is unrelated to the neurological symptoms is strengthened by these observations. There may, however, be an association with a predisposition for mental deficiency.
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PMID:Serum carnosinase deficiency: a non-disabling phenotype? 409 64

43 pre-term newborns with birth weight of less than 1,500 grams who had been admitted to the Neonatal Intensive Care Unit of the Department of Pediatrics of the University Clinic, Bonn, between 1971 and 1977, were reexamined on age between 1-7 years. A severe neurological handicap (hemiplegia with mental retardation) was present in only one child. There was no child with convulsions. Signs of minor cerebral dysfunction were present in five children. Developmental retardation of mild degree was observed in eight children. 28 children were entirely normal. Our results are in accordance with the encouraging reports of other recent authors concerning the improving long-term prognosis of very-low-birth-weight pre-term infants.
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PMID:[Follow-up pre-term newborns with birth weight of less than 1500 grams now aged between 1-7 years (author's transl)]. 611 1

A series of 48 children with scaphocephaly has been reviewed. 44 had synostosis of the sagittal suture alone, and four had additional involvement of other sutures. Although six children showed significant developmental delay, with eventual mental retardation in five cases, it does not appear that this is caused by mechanical constriction of the brain. In the majority of cases, scaphocephaly appears to be a benign variant in cranial development. Operation by linear craniectomy was performed for cosmetic reasons in 14 cases, and in general the results were good. Operation was not performed in the other 34 cases, including 15 seen in infancy, and review of these has shown a high incidence of anxiety among parents and children. Therefore there is an acceptable case for cosmetic correction of severe scaphocephaly in infancy.
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PMID:Scaphocephaly: aesthetic and psychosocial considerations. 616 75


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