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Developmentally delayed sensitivity of acetylcholine receptor in myotubes of nerve-muscle cocultures from genetically diabetic mouse embryos.

The neuromuscular junctions of genetically diabetic KK-CAy mice are reported to be hypersensitive to succinylcholine (SuCh) but not to d-tubocurarine (d-TC). Spinal cord-muscle cocultures from normal ddY and diabetic KK-CAy mouse embryos were studied to examine the involvement of genetic factors in this hypersensitivity to SuCh. KK-CAy myotubes were morphologically normal, as determined by light microscopy. KK-CAy myotubes showed a progressive increase in the resting membrane potentials and acetylcholine (ACh) sensitivity with development, but this development was delayed when compared with ddY myotubes. The ACh receptor clusters, fluorescently labeled by fluorescein isothiocyanate conjugated alpha-bungarotoxin (FITC-alpha BuTX), were formed on the surface membrane of KK-CAy myotubes. The developmental increase of the total amount of fluorescence within ACh receptor clusters on KK-CAy myotubes was also slower than that of ddY myotubes. Depolarization by SuCh was sustained at a higher level in KK-CAy myotubes. In regards to the inhibition of ACh potentials, KK-CAy myotubes were not hypersensitive to both SuCh and d-TC when compared with ddY myotubes. These results suggest that the hypersensitivity to SuCh is not dependent on the genetic difference between ddY and KK-CAy mice, and is probably due to the developmentally diabetic state of the neuromuscular junction.

Animals↗

Widespread capillary malformation associated with global developmental delay and megalencephaly.

Although port wine stains are seen in 0.3% births, widespread cutaneous capillary malformations are unusual and an association with static gliosis has not been previously reported. This is a report of a 3-year-old boy with a fixed widespread capillary naevus (port wine stain), megalencephaly and global developmental, and features of gliosis on brain magnetic resonance imaging (MRI).

Abnormalities, Multiple↗

Developmental delay of lingual lipase expression after guanethidine-induced sympathectomy.

Rat lingual lipase increases during postnatal development. To evaluate the role of the sympathetic nervous system in the control of lingual lipase during development, suckling rats were chemically sympathectomized by chronic treatment with guanethidine. This treatment was found to be effective in suppressing the developmental increase of lingual lipase. The effect was age dependent and also related to the dose of guanethidine given (i.e., the higher the dose, the more effective the suppression is, up to 40 micrograms/g body wt). The effect of guanethidine on lingual lipase suppression was not a result of induced stress, since simultaneous treatment with RU-38486, a known glucocorticoid receptor antagonist, did not prevent the decrease in lingual lipase activity. Ephedrine, a known sympathomimetic agent, restored the lingual lipase to a near normal level in guanethidine-treated animals, confirming that guanethidine acts through the sympathetic nerves. Furthermore, histochemical studies showed that guanethidine-treatment resulted in the reduction or elimination of catecholaminergic fibers in the von Ebner's glands. The effect of guanethidine was found to be transient, in that the lingual lipase activity showed complete recovery upon withdrawal of the treatment for 1 week. Together, the results indicated that sympathetic nerves have an important regulatory role in lingual lipase in rat pups during development.

Age Factors↗

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis.

Abnormalities, Multiple↗

Screening tests and standardized assessments used to identify and characterize developmental delays.

The appropriate choice, application, and interpretation of functional assessments of children with problems of development are often challenging issues for clinicians. The purposes of this communication are to share with clinicians an understanding of the structure and properties of functional assessment measures; to offer an orientation to the application of such measures to help evaluate a child's developmental status; and to suggest issues that are important to consider in the interpretation of the findings, and how these might be shared with parents. Numerous references are cited for readers who wish to read more about measures in general and about specific clinical assessment tools that are most useful in applied child development.

Child↗

Abnormal truncal muscle tone as a useful early marker for developmental delay in low birth weight infants.

Thirty-four outborn premature infants of appropriate gestational ages with birth weights less than 1,750 g were seen in follow-up at 3, 6, 12, and 18 months, corrected age to assess the incidence of abnormalities of muscle tone and the relationship of the site of early abnormalities to 18-month developmental status. The incidence of abnormal tone was most common at 3 months and declined with increasing age. The percentages of infants with abnormal tone at 3, 6, 12, and 18 months, respectively, were: increased lower extremity tone--62%, 71%, 38%, 9%; decreased lower extremity tone--3%, 3%, 6%, 9%; increased truncal tone--41%, 15%, 6%, 0%; decreased truncal tone--21%, 18%, 15%, 6%. Infants with truncal hypertonicity at 3 months had significantly lower Bayley motor and mental scores at 18 months when compared with infants with normal truncal tone (P less than .05). However, infants with lower extremity hypertonicity at 3 months were no different developmentally at 18 months from infants with normal tone. Infants with truncal or lower extremity hypotonicity fared the worst developmentally (P less than .05). We conclude that there is a high incidence of abnormal muscle tone in premature infants up to 18 months of age and that early truncal tone abnormalities are associated with a worse developmental outcome.

Aging↗

Early intervention for preschoolers with developmental delays: the case for increased child collaboration.

In this article are analyzed the four following premises that explain why early intervention programs for preschool children with mental retardation (and other disabilities) have tended to adopt a teacher-directed "cultural transmission" or remedial model of education, whereas preschool programs for children without disabilities have generally preferred a more child-directed "developmental" model. (1) The purpose of early intervention is to accelerate and remediate, rather than support, cognitive growth. (2) Learning and accountability are maximized by specific instructional objectives written into educational plans rather than by encouraging children's own constructivist efforts. (3) Children with retardation are defective, not just slow but otherwise normal and so require extensive adult direction. (4) Research findings are favorable rather than ambiguous towards demonstrating the effectiveness of existing instructional methods. The four premises are reviewed and critiqued. It is concluded that there is sufficient doubt about the cultural transmission remedial model to justify further expansion of the developmental approach in early intervention programs, at least for some children in some areas. Changes in attitudes and practices that such an expansion would entail are discussed.

Child, Preschool↗

Stability of cognitive performance of children with developmental delays.

A prospective longitudinal study of the development of children with delays of unknown etiology yielded data on the stability of cognitive performance over a 6-year period. Mean age at entry was 34.2 months; mean age at exit, 109.7 months. Data reported in the present article were based on assessments using the Gesell Developmental Schedules and the Stanford-Binet Intelligence Scale. For the group as a whole, the means of the test scores over time were remarkably stable. The stability of test scores appeared to be related to the level of functioning at entry, with those children with the highest development quotients at entry making the most progress over time.

Cognition↗