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We report the case of a child affected by a duplication of chromosome 13(q32-q34). This cytogenetic abnormality is rarely described in the literature. The description of our patient's characteristics might contribute to a better phenotype definition.
A male infant with hypertelorism and hypospadias was found to have skeletal changes suggesting metaphyseal dysplasia. Associated findings included congenital nystagmus, hearing impairment, and a complex translocation involving the number 5, 8, and 10 chromosomes. Although some of these abnormalities may be coincidental, they might represent infrequent components of the BBB syndrome. It is just as likely, however, that the syndrome is a new one.
We report a female patient with a unique pattern of pre- and postnatal growth deficiency, tetralogy of Fallot, very long eyelashes (trichomegaly), progressive and generalized hypertrichosis lanuginosa, brain atrophy with epilepsy, and puffy hands and feet. This appears to be a "new" entity within the group of syndromal hypertrichoses, possibly pathogenetically related to, but clinically distinct from Ambras or Oliver-McFarlane syndromes.
We describe the clinical and cytogenetic findings in a boy with an unbalanced karyotype involving monosomy for 3q27-q29. He does not resemble other reported cases of del(3q). Deletions of the long arm of chromosome 3 are extremely rare, having been reported in five cases, only two of which had terminal 3q deletions.
We report on a sib pair who manifest a pattern of anomalies which appears to be unique and for which we are unable to provide a cytogenetic or molecular genetic explanation. While a number of their physical features are distinct, their overall appearance and pattern of neurological impairment suggest they suffer from the same genetic disorder.
The author introduces the work of a multiprofessional recruted team, which diagnoses development disorders. It should be pointed out, that the local quality standard of diagnosing development disorders can be improved by intensifying the cooperation between the social institutions, which train or therapy children. Especially in the country far away from diagnostic centers this kind of cooperation can complete the psycho-social assistance network without calling for additional public recources.
Unusually low voice volume was identified by teachers as a significant impediment to the academic and social progress of two preschool students. A simple operant shaping procedure was conducted by teachers to increase voice volume using a voice-activated apparatus with attractive visual display. Setting generalization of volume increases to the classroom was achieved and maintained at one- and four-month follow-ups.
Ninety-four healthy full-term and preterm infants, who differed because of immaturity, not medical or social risk factors, were assessed at 3 and 24 months of age. Preterm infants scored significantly lower on the Bayley Mental Development Index (MDI), but not the Psychomotor Development Index (PDI) compared with full-term infants at 24 months (age corrected for prematurity). Nine factors, which included a combination of environmental and infant temperament variables, accounted for 36% of the variance in MDI scores. Separate regression analyses by infant group found that the caregiving environment, Home Observation for the Measurement of the Environment (HOME total score), contributed more to the variance in preterm than full-term development, despite the fact that the HOME scores were high and did not differ between groups at 2 years of age. These findings provide further evidence of the need to continue developmental follow-up for healthy low birth weight (LBW) preterm infants and of the important influence of early caregiving factors on later development, even for middle-class, LBW preterm infants.
3-Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3-methylglutaconic aciduria can be distinguished. In the type I form, accumulation of 3-methylglutaconate is due to deficient activity of 3-methylglutaconyl-CoA hydratase, an enzyme of the leucine degradation pathway. In the other forms, 3-methylglutaconic acid is not derived from leucine but is of unidentified origin, possibly derived from other metabolic pathways, such as mevalonate metabolism. We report five patients, all presenting a severe early-onset phenotype characterized by 3-methylglutaconic aciduria, hypertrophic cardiomyopathy, cataract, hypotonia/developmental delay, lactic acidosis, and normal 3-methylglutaconyl-CoA hydratase activity. This peculiar phenotype, for which a primary mitochondrial disorder is hypothesized, identifies a novel subtype of 3-methylglutaconic aciduria.
This study reports the results of psychological and physical characteristics of seven children with Williams syndrome. All subjects were found to be borderline to severely mentally retarded. The previously reported pattern of superior verbal abilities over motor abilities was not supported, nor was there any evidence of an "unusual command" of language, usually considered a marker of the syndrome. The early development profiles of these children are important for parental counseling and planning of early intervention stimulation programs.
We report a 6-year-old girl with corpus callosum agenesis and other cerebral malformations, scoliosis and hypopigmented chorioretinal lacunae in both fundi typical of Aicardi syndrome. She has never had epilepsy and the EEG has always been normal, observations not reported previously in Aicardi syndrome. She was mildly mentally retarded with a full scale IQ of 61. The patient exhibited an unusually mild Aicardi syndrome phenotype.
Six infants with congenital myotonic dystrophy survived after neonatal intensive care. In later childhood they were assessed by the Griffiths Mental Development Scales: five children were functioning in the mildly handicapped to borderline range of development (DQ 64.0 to 79.0) and the remaining child was severely delayed in development (DQ 33.0). The five children with higher DQ values had a history of ventilatory support of 30 days or less after birth. By contrast, the remaining child with the lowest DQ value had been ventilated for 43 days. This study provides further evidence that prolonged ventilation after birth has prognostic significance in identifying severely affected cases with congenital myotonic dystrophy.
In 563 surviving very preterm (less than 32 weeks gestational age) and/or very low birthweight (less than 1500 g) infants the relationship between neonatal thyroxine concentration and psychomotor development at 2 years of age (corrected for preterm birth) was studied. A significant association was found between low neonatal thyroxine concentration and a negative score on the three milestones of development. These findings do not support the view that transient hypothyroxinaemia in preterm infants is harmless.
We report a third family with members displaying pre- and postnatal growth retardation, hypotonia, psychomotor retardation, small puffy hands and feet, dental anomalies and eczematous skin. The four affected members are all females born to unrelated parents consistent with the previously proposed autosomal recessive mode of inheritance. We report a further clinical feature of selective immunoglobulin IgG2 subclass deficiency which would explain some of the clinical findings and might provide an immunological marker for diagnostic confirmation of the syndrome.
The aim of this study was to provide a comprehensive profile of the sensory, motor, language, and intellectual functioning of a non-referred community sample of 49 preschool children with attention-deficit-hyperactivity disorder (ADHD; 39 males, 10 females; mean age 4y 7mo [SD 7mo]; range 3y 10mo-6y) and 48 typically developing children (38 males, 10 females; mean age 4y 8mo [SD 6mo]; range 3y 11mo-6y) matched by age, sex, and maternal education who underwent a broad battery of neurodevelopmental tests. The results showed that the scores of the ADHD group were significantly lower than the comparison group on all measures. In addition, 23 (47%) of the children with ADHD had clinically significant co-occurring deficits in two or more areas. Logistic regression indicated that the only significant predictors of group classification were scores of verbal intelligence and motor and sensory functioning, accounting for 44.1% of the variance. These findings suggest that preschool children with ADHD have multiple developmental deficits over and above the core symptoms of ADHD and emphasize the importance of evaluating the sensorimotor functioning of preschool children with ADHD symptoms.
Early registration of disturbances in the development of infants was based on neurological examination. Since 1984 exists the possibility of psychological evaluation of infants and children in early childhood in the Department of Paediatrics of the University of Rostock. Parents of children suffering from disturbances of development receive additionally to the concept of physiotherapy an early intervention program to furtherance of children. In this way best conditions are prepared in development and evaluation of admission in special institutions (special kindergarten, day-nursery).
It is now 20 years since the Portage Home Teaching model of early intervention was introduced into the UK. In this paper, an overview of the Portage Model and rationale is provided, achievements over the past two decades are noted and related research and evaluation studies are reviewed. A number of areas for future development are also highlighted. These include: issues of quality control; the multi-cultural dimension of Portage; multi-agency collaboration; professional training needs of Portage personnel; and influencing central government policy relating to families who have a young child with special needs.
Brothers are reported with an apparently new constellation of manifestations including Dandy-Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X-linked recessive. An extensive review of the differential diagnosis of DWC is provided.