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)

A one-year-old male with seizures and developmental delay was found to have a ring 14 chromosome without a major band deletion. This brings the number of documented r(14) cases to seven. These patients have focal cerebral atrophy with seizures as their dominant manifestation, together with few minor facial anomalies. This combination suggests that abnormalities in the 14 chromosome may result in rather nonspecific central nervous system maldevelopment and dysfunction and raises the possibility that unexplained seizures with minor anomalies and mental retardation may warrant chromosome investigation.
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PMID:Ring 14 chromosome: association with seizures. 617 Feb 24

Chromosomal analyses were performed on 302 individuals, using QFQ banding techniques to determine the occurrence of heteromorphism of chromosome 4. Two type of heteromorphism were observed, one showing an intensely fluorescent band in the centromere region and the other an intensely fluorescent band in the proximal area of the short arm. No one individual possessed both type of heteromorphism. A higher frequency of chromosome 4 heteromorphism was found in patients with schizophrenia, mental retardation, hyperactivity, developmental delay and speech impediments than in normal individuals.
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PMID:Polymorphism in chromosome 4. 617 Apr 84

A new syndrome of craniosynostosis is described in two unrelated male children. Associated anomalies include severe exophthalmus; maxillary and mandibular hypoplasia; soft tissue hypertrophy of the palatal shelves; low-set ears with soft, pliable auricles; thoracic anomalies; multiple abdominal hernias; arachnodactyly; and camptodactyly. Functional disorders include infantile hypotonia, developmental delay, mental retardation, and obstructive apnea. Karyotypes were normal. An etiology for this recurrent pattern syndrome has not yet been established in the absence of a family history of similar anomalies in both cases.
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PMID:A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias. 618 56

The specific target behavior of encopresis in individuals with mental retardation and developmental disorders (MR/DD) is not well-defined in the literature on encopresis or in the literature on specific interventions with MR/DD populations. The criteria for establishing a diagnosis of encopresis in individuals with MR/DD are not clear. The literature on encopresis was reviewed for two factors: (1) definitions according to three major definitional criteria of age, defecation patterns and etiology; and (2) the relationship between etiology and intervention in specific, MR/DD, and nonspecific populations. This review yielded no clinical description of encopresis in MR/DD children, no guidelines for differentiating encopresis from generalized developmental delay and no substantive treatment guidelines. Although no definitions or treatment formulations specific to MR/DD were identified, information and definitional guidelines derived from the general literature on encopresis are relevant to identification, definition and treatment issues for MR/DD populations. Interdisciplinary or team approaches are appropriate for individuals with multiple problems or developmental disorders and intractable encopresis. An interdisciplinary approach, neurodevelopmental-behavioral intervention, which was successfully employed with a 5-year-old encopretic child with multiple developmental problems, is described.
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PMID:Interdisciplinary treatment of encopresis in individuals with developmental disorders: need and efficacy. 618 48

The fragile-X syndrome, an X-linked form of mental retardation, is estimated to affect one in every 1,000 to 2,000 live-born male infants. Most commonly, fragile-X syndrome has been detected only after patients clearly demonstrate developmental delay, and frequently detection occurs only if the family history is consistent with X-linked mental retardation. Macro-orchidism is a finding commonly associated with the fragile-X syndrome. It has been suggested that the sparsity of reports of macro-orchidism among prepubertal boys with the fragile-X syndrome might be due to lack of careful measurement of the tests rather than to initiation of the enlargement at puberty. A 5-month-old infant with fragile-X syndrome, ascertained through testicular enlargement noted by actual measurement of testicular size as part of his physical examination, is reported.
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PMID:Fragile-X syndrome ascertained by the presence of macro-orchidism in a 5-month-old infant. 649 84

Eleven children with cerebral gigantism or Sotos' syndrome were assessed regarding their cognitive, emotional, and behavioral status. The children demonstrated high rates of emotional and behavioral disorders, but no specific pattern or personality style was detected. On the cognitive assessments, all of the children presented with cognitive impairment or mental retardation, the range of which was variable. As with other syndromes associated with developmental delay, there was a wide range of expression of problems.
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PMID:Emotional, behavioral, and cognitive status of children with cerebral gigantism. 673 59

A new instrument for the detection of the postauricular myogenic (PAM) response was used to test the hearing of 106 infants weighing less than or equal to 1,500 g when they were aged 1 to 21 months. Eighty-eight infants showed a positive response at 60 dB hearing level (HL) (normal). The other 18 did not respond; four were found to have sensory neural hearing loss and another six had conductive loss due to secretory otitis media. Of the 106 children, 90 aged 2 years or more (mean 27 months) were living in the United Kingdom, and their language development was assessed. It was normal in 67/75 children whose PAM response had been normal in infancy. The remaining eight children with normal PAM responses in infancy, had language delay. All eight children had problems that were thought to account for the delay, including three with mental retardation, three with cerebral palsy, and two whose families did not speak English. Language development was normal in 11/15 children tested whose PAM responses had been found to be abnormal, including all six whose secretory otitis media had been diagnosed and treated at the time of the PAM test. Delay in language development was found in 3/4 children with sensory neural hearing loss who were available for testing and in one child with overall developmental delay. It is concluded that a positive PAM response at 60 dB HL in infancy indicated hearing adequate for the development of normal speech in otherwise normal children among a group of infants at high risk of hearing loss.
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PMID:Language development in a group of very low-birth-weight children whose postauricular myogenic response was tested in infancy. 682 31

A case is reported who had developmental delay, infantile spasms and the salient features of the CHARGE association--colobomatous micropthalmia, congenital heart-disease, mental retardation and hearing loss. This syndrome represents a distinct and clinically recognisable entity, and should be considered in patients with infantile spasms and ocular malformations.
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PMID:Infantile spasms and the CHARGE association. 687 99

Thrombocytopenia with absent radius (TAR) syndrome is infrequently (7%) associated with mental retardation. In those cases, the mental deficiency is presumed to be a consequence of intracranial hemorrhage due to the thrombocytopenia. We report on 2 infants with TAR syndrome. One had developmental delay with evidence of cerebral dysgenesis by magnetic resonance imaging (MRI). Such findings have not been noted in the literature, but may not have been investigated in most cases. The other infant with TAR syndrome, who has had normal psychomotor development, has a normal brain on MRI scan. Detailed neuroimaging studies, preferably MRI, should be considered in the evaluation of patients with TAR syndrome, especially when there are documented signs of developmental delay, with or without a history of intracranial hemorrhage.
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PMID:Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies. 751 89

We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has mental retardation, microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence, agenesis of the corpus callosum, a similar face to case 1 and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes. She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown.
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PMID:A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. 751 54


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