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

In the differential diagnosis as well as in the rehabilitation of hearing impaired children other disorders affecting language aquisition and speech development need to be taken into account. The rehabilitation programme is highly dependent on the early diagnosis of these additional disorders such as dysphasia, mental retardation of various degrees, cognitive disorders such as dyslexia and dysgraphia, dyspractic and dysarthric disorders of speech production, cleft palate and other anomalies of articulatory organs, autism and other abnormal features of psychic and personality development. In addition children with multiple disorders like malformations, visual disorders, epilepsy, CP and other diseases and handicaps, even though they may not influence language and speech development directly, may still be deprived of possibilities to aquire adequate verbal stimulation. The paper presents a material of 200 children whose hearing loss was diagnosed at the preschool age. Major associated handicaps were found in 35.5% of cases and in 26% they were complicating rehabilitation and development of the child. The frequency of associated disorders and their effect on language and speech development, learning ability and social development is being more closely analysed and discussed.
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PMID:Associated handicaps in children with hearing loss. 322 82

In 1969, Herrmann and Opitz described a syndrome of acrocephaly, oligosyndactyly, hypertelorism, and mental retardation. We report on a second case, a fetus with cleft palate, urethral astresia, oligohydramnios, and intrauterine death.
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PMID:Herrmann-Opitz syndrome: report of an affected fetus. 330 Mar 35

Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotility (69%), laryngotracheal clefts (44%), cleft palate or bifid uvula (34%), heart defects (29%), hypospadias (100% of males), renal or ureteral anomalies (42%), and mental retardation (38%). Affected relatives, often identified by hypertelorism, dysphagia, or hypospadias, had a much lower incidence of associated defects and mental retardation. They provide a more rounded but still biased view of a syndrome compatible with normal intelligence and life span. The data do not support a highly characteristic face in the G syndrome, which discriminates it from the phenotypically similar BBB syndrome. The variable expressivity and five cases of male to male transmission observed in 18 families are consistent with autosomal dominant inheritance. Vigilance for the morphological characteristics of G syndrome in patients with dysphagia is underscored by the potential for normal development with appropriate intervention.
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PMID:Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. 335 1

GUSB, the gene for beta-glucuronidase, has been localized to the proximal long arm of chromosome 7 between 7q11.2 and 7q22. Deficiency of beta-glucuronidase results in mucopolysaccharidosis type VII (MPS VII, Sly syndrome). The enzymatic defect has been demonstrated in cultured skin fibroblasts, leukocytes and serum of affected patients. An 8-yr-old boy presented with manifestations similar to MPS VII (mental retardation, short stature, "coarse" facial appearance, mild skeletal involvement and recurrent lower respiratory tract infection) but other, discrepant abnormalities, e.g., bilateral iris colobomata and cleft palate. Normal activity of beta-glucuronidase was found in the patient's leukocytes. Chromosome analysis disclosed an interstitial deletion of 7q with one breakpoint at the interface between bands 11.22 and 11.23 and the other breakpoint within band 21.1. DNA from this patient's leukocytes was analyzed for dosage of GUSB sequences. This locus appeared to be present at the normal diploid level. These findings suggest that GUSB is not in the portion of chromosome 7 deleted in our case, narrowing the smallest region of overlap to 7q21.1----7q22. We therefore assign the beta-glucuronidase gene to 7q21.1----7q22.
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PMID:Deletion mapping of the beta-glucuronidase gene. 337 95

We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.
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PMID:[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]. 341 6

The world-wide incidence of the fetal alcohol syndrome (FAS) is 1.9 per 1000 live births. Incidence rates vary considerably, however, depending on study site. Mental retardation is a cardinal feature of FAS and is now recognized as the leading known cause of mental retardation in the Western world. Conservatively estimated for the United States, the economic cost associated with FAS-related growth retardation, surgical repair of organic anomalies (e.g. cleft palate, Tetralogy of Fallot), treatment of sensorineural problems, and mental retardation, is +321 million per year. FAS-related mental retardation alone may account for as much as 11% of the annual cost for all mentally retarded institutionalized residents in the United States. Current treatment costs for FAS-related problems are about 100 times federal funding for FAS research necessary to develop cost-effective early identification and prevention strategies.
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PMID:Incidence of fetal alcohol syndrome and economic impact of FAS-related anomalies. 354 31

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

The nevus sebaceus of Jadassohn (SNJ) is a congenitally-occurring, hamartomatous disorder of the skin and its adnexa of infrequent occurrence. This presentation of five cases emphasizes the smooth, waxy, yellow-brown lesion's progression into a thickened sebaceous tumor of premalignant predilection. The incidence of neoplastic degeneration of these hamartomatous nevi may be as high as 30% with the capacity of metastasis occasionally reported. Because of malignancy risks as well as cosmetic considerations, early surgical removal is recommended. Previously unreported problems of dysphagia and malnutrition secondary to pulsion diverticulum at the esophageal inlet and cleft palate, obliterative aural stenosis with associated conductive hearing loss are documented. Regardless of SNJ's occurrence as either an isolated lesion or as the fully developed syndrome, including mental retardation and epilepsy, this congenital malformation of the skin, its hair, and sebaceous glands presents rare and histologically intriguing problems for the practitioner.
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PMID:Nevus sebaceus of Jadassohn: the head and neck manifestations. 361 88

A five-year-old girl was referred to prometaphase chromosome analysis because of mental retardation, facial dysmorphic features suggestive of Cornelia de Lange syndrome, cleft palate and additional minor congenital malformations of the cardiac system and fingers and toes. A familial balanced translocation (3;9)(q26.1; p23) was found. The karyotype of the proposita was 46,XX,der(9),t(3;9)(q26.1;p23). Thus the patient was trisomic for 3q26.1-qter and monosomic for 9p23-pter. The unbalanced chromosome constitution was not detected by standard Q-banding analysis shortly after birth. The karyotype was misdiagnosed as 46,XX,9(p+) in the proposita and her mother, and thought to be a normal variant of chromosome 9. The repeated cytogenetic study led to the diagnosis of the translocation and to the possibility of prenatal diagnosis in the translocation carriers. A survey of 22 published cases of dup(3q) showed that nearly 60% were secondary to familial balanced rearrangements with an excess of maternally derived abnormal chromosomes 3. Red blood cell galactose-1-phosphate-uridyltransferase (GALT) activity was normal in the patient, consistent with previous assignment of the gene locus for GALT to 9p13 (Shih et al. 1982).
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PMID:Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1; p23). 365 93

We report the histopathological findings of the temporal bones and the nasal and paranasal specimen of a 7-month-old girl diagnosed as having Wolf-Hirschhorn or 4p- syndrome (deletion of the short arm of chromosome 4). This syndrome is characterized by growth retardation, mental retardation, and multiple congenital abnormalities, including craniofacial anomalies and hearing disturbance. These temporal bones displayed malformation of the ossicles, absence of the oval windows, abnormal course of the facial nerve with incomplete bony canal, and depression of the cochlear duct and the saccule. In addition, cholesteatoma, which might be of congenital origin, was present behind the eardrum. The nasal and paranasal specimen showed bilateral complete cleft palate with normal development of paranasal sinuses, nasal septum, and conchae.
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PMID:A histological study of the temporal bones and the nose in Wolf-Hirschhorn syndrome. 367


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