Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few. (+info)
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). However, three of the four individuals developed extensive areas of acanthosis nigricans beginning in early childhood, suffer from severe neurological impairments, and have survived past infancy without prolonged life-support measures. The FGFR3 mutation (A1949T: Lys650Met) occurs at the nucleotide adjacent to the TD type II (TD2) mutation (A1948G: Lys650Glu) and results in a different amino acid substitution at a highly conserved codon in the kinase domain activation loop. Transient transfection studies with FGFR3 mutant constructs show that the Lys650Met mutation causes a dramatic increase in constitutive receptor kinase activity, approximately three times greater than that observed with the Lys650Glu mutation. We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations. (+info)
Iron supplemented formula milk related to reduction in psychomotor decline in infants from inner city areas: randomised study.
OBJECTIVE: To compare the effect of unmodified cows' milk and iron supplemented formula milk on psychomotor development in infants from inner city areas when used as the main milk source. DESIGN: Double blind, randomised intervention trial. SETTING: Birmingham health centre. SUBJECTS: 100 infants, mean age 7.8 months (range 5.7 to 8.6 months), whose mothers had already elected to use unmodified cows' milk as their infant's milk source. INTERVENTION: Changing to an iron supplemented formula milk from enrolment to 18 months of age, or continuing with unmodified cows' milk. MAIN OUTCOME MEASURES: Developmental assessments using Griffiths scales at enrolment and at 18 and 24 months. RESULTS: 85 participants completed the trial. There were no significant differences in haemoglobin concentration between the two groups at enrolment, but by 18 months of age 33% of the unmodified cows' milk group, but only 2% of the iron supplemented group, were anaemic (P<0.001). The experimental groups had Griffiths general quotient scores that were not significantly different at enrolment, but the scores in both groups declined during the study. By 24 months the decrease in the mean scores in the unmodified cows' milk group was 14.7 whereas the decrease in the mean scores in the iron supplemented group was 9.3 (P<0.02, 95% confidence interval 0.4 to 10.4). Mean subquotient scores were considerably lower in the unmodified cows' milk group at 24 months; significantly so for personal and social scores (P<0.02, 1.2 to 16.8 [corrected]). CONCLUSION: Replacing unmodified cows' milk with an iron supplemented formula milk up to 18 months of age in infants from inner city areas prevents iron deficiency anaemia and reduces the decline in psychomotor development seen in such infants from the second half of the first year. (+info)
Is grammar special?
Recent studies of children with developmental disorders provide striking insights into the nature of language. These studies suggest that, although much of language arises from more general cognitive capacities, certain aspects of grammar have an autonomous psychological and neural basis. (+info)
On the relation between object manipulation and stereotypic self-injurious behavior.
Results from a number of studies have shown an inverse relationship between stereotypic behavior and object manipulation. The purposes of this study were to determine whether techniques similar to those used previously (prompting and reinforcement) would be effective in increasing object manipulation under both prompted and unprompted conditions, and to ascertain whether increases in object manipulation would result in decreases in stereotypic self-injurious behavior (SIB). Two individuals with developmental disabilities who engaged in SIB maintained by automatic reinforcement participated. Results showed that object manipulation increased from baseline levels when experimenters prompted participants to manipulate leisure items, but that object manipulation was not maintained under unprompted conditions, and rates of SIB stayed within baseline levels. We then attempted to increase object manipulation further by (a) reinforcing object manipulation, (b) blocking SIB while reinforcing manipulation, and (c) preventing SIB by applying protective equipment while reinforcing object manipulation. Reinforcing object manipulation alone did not affect levels of object manipulation. Blocking effectively reduced attempts to engage in SIB for 1 participant but produced no increase in object manipulation. When the 2nd participant was prevented from engaging in SIB through the use of protective equipment, rates of object manipulation increased dramatically but were not maintained when the equipment was removed. These results suggest that stimulation derived from object manipulation, even when supplemented with arbitrary reinforcement, may not compete with stimulation produced by stereotypic SIB; therefore, direct interventions to reduce SIB are required. (+info)
Decreasing signs of negative affect and correlated self-injury in an individual with mental retardation and mood disturbances.
We evaluated the effects of an enriched environment, based on a paired-choice preference assessment, on both rates of self-injurious behavior (SIB) and percentage of session intervals during which signs of negative affect were displayed by a woman with mental retardation and a mood disorder. Results suggested that SIB and signs of negative affect were highly correlated and that the enriched environment effectively reduced both. (+info)
Examination of ambiguous stimulus preferences with duration-based measures.
Items that produced ambiguous results in an approach-based preference assessment were reassessed using a duration-based assessment. The reinforcing effects of three items on free-operant responding were subsequently tested. The results suggested that the duration-based assessment produced slightly more differentiated results and that predictions about reinforcer value, based on this assessment, were accurate. (+info)
Is maternal age a risk factor for mental retardation among children?
The purpose of this study was to determine whether older or very young maternal age at delivery is associated with mental retardation in children. Ten-year-old children with mental retardation (an intelligence quotient of 70 or less) were identified in 1985-1987 from multiple sources in the metropolitan Atlanta, Georgia, area. These children were subdivided into two case groups according to whether they had concomitant developmental disabilities or birth defects affecting the central nervous system (codevelopmental retardation) or did not have such disabilities (isolated retardation). Control children were randomly chosen from the regular education files of the public school systems in the study area. Data on sociodemographic variables were gathered from birth certificates. Children of teenaged mothers were not at increased risk for either form of retardation and children of mothers aged > or =30 years were not at increased risk for isolated retardation, in comparison with children of mothers aged 20-29 years. A markedly elevated risk of codevelopmental retardation was seen among black children of mothers aged > or =30 years that was not attributable to Down syndrome. A modest increase in risk for codevelopmental retardation was observed among white children born to older mothers, but it was entirely due to Down syndrome. (+info)