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Seven new cases of Weaver syndrome are described, including the first reported case in an adult. Overgrowth is usually but not always present. The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the distal long bones, is diagnostic of Weaver syndrome.
In a clinic population of 289 children (nine years of age and under) suspected of developmental delay, it was found that correlations on repeated administrations of the Bayley and/or Stanford-Binet intelligence tests were much higher than in normal children; that the magnitude of the correlations was inversely related to IQ level; that children initially tested under two years of age displayed more IQ change than those tested over the age of two, with girls more likely than boys to show a drop, and the greatest amount of fluctuation occurring the 51-80 range. The IQ constancy of this population has important developmental implications for the retarded: it suggests that they are growing intellectually at a rate proportional to normal children of their own mental rather than chronological age; that they may well have more years of maturation before reaching a plateau; and that educational programs should take into consideration this lengthened learning period.
We describe a 4-month-old male patient with severe developmental delay and elevated lactate in blood and CSF. The MR images showed abnormalities differing from the typical pattern found in association with Leigh's disease. The examination of fibroblast cultures showed diminished activity of mitochondrial complexes I and III. The patient died at the age of 9 months.
Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome: We report on a girl with a mosaic karyotype containing a supernumerary ring chromosome. Fluorescence in situ hybridization (FISH) studies showed that this marker chromosome was derived from chromosome 12, resulting in partial trisomy 12p13.1-->12q11. The girl showed developmental delay, cerebral visual impairment, obesity and mild dysmorphic features. Her clinical data at 6 months, 3 years, and 6 years of age were compared with the clinical data on other trisomy 12p patients.
Eight children from seven presumably unrelated families were identified independently as having an unbalanced recombinant chromosome resulting in the presence of extra material on the short arm of a chromosome 8. Parental chromosomes were analyzed, and one member of each couple (four fathers and three mothers) was found to carry a pericentric inversion of a chromosome 8 [inv(8)(p23q22)]. The propositi had an unbalanced recombinant chromosome [rec(8),dup q,inv(8)(p23q22)]. The affected infants all had developmental delay, congenital heart disease, and unusual appearance. A common origin of the pericentric inversion was suggested because of geographic location and Mexican--American ancestry of the seven families.
UNLABELLED: We report a case of group A streptococcal meningitis in an infant resulting from an infected capillary haemangioma. The child suffered significant morbidity including cerebral infarction, epilepsy, and developmental delay. Treatment of infected capillary haemangiomas remains controversial and inconsistent. CONCLUSION: Our experience of this infant, resulting in profound neurological morbidity suggests that group A Streptococcus can be a virulent organism in the young child and that capillary haemangiomas must be treated aggressively at the first sign of infection.
BACKGROUND: High risk newborns such as the Very Low Birth Weight (VLBW) require long term follow up to ascertain their subsequent survival and quality of life (based on neurological intactness). Though such data is now standard in the developed world, little is known in published literature about the situation in resource constrained countries. OBJECTIVE: To describe the neurological outcomes of VLBW infants evaluated at two years of age. DESIGN: Longitudinal descriptive survey. SETTING: Kenyatta National Hospital's Newborn Unit during the year 2002. SUBJECTS: One hundred and twenty infants born weighing 1000 grams and 1500 grams followed up until the age of 24 months. RESULTS: Of the 120 infants evaluated, 14 (11.7%; 95% CI 6.2-17.1) had cerebral palsy, 11 (9.2%; 95% CI 4.8-16.9) were delayed on cognitive assessment while 32 (26.7%; 95% CI 9.3-38.1) were found to have functional disabilities. The factors associated with functional disability in the cohort included; neonatal illness (P = 0.005, 95% CI 1.26<2.43<4.69), exclusive use of breast milk in the first month (P = 0.02, 95% CI 1.10<2.04<3.78), neonatal weight gain less than 15 grams/kg/day (P = 0.014, 95% CI 1.13<2.24<4.42), history of re-hospitalisation (P<0.001, 95% CI 1.72<3.33<6.34) and weight less than the third percentile at two years (P = 0.019, 95%1.09<2.22<4.53). CONCLUSIONS: Neurological dysfunction was more frequent in this cohort than presently reported from other centres. The cross-tabulations indicate that history of neonatal illness, choice of early nutrition, slower growth and post discharge morbidity were associated with subsequent neurological dysfunction. The factors associated with developmental delay in this cohort should be explored further in order to determine the manipulations required in the newborn period for improvement of neurological outcomes among these high risk infants.
A retrospective review of thyroid function tests (TFTs) was performed on 49 young children (aged 4 months to 3 years) with Down syndrome compared with age-matched controls screened for hypothyroidism because of developmental delay or failure to thrive. Three of the 49 children with Down syndrome had congenital hypothyroidism; of the three, one had Hirschsprung's disease and two had duodenal atresia. Thyroiditis was uncommon, with only two children having thyroid antibodies present: one had acquired hypothyroidism and the other acquired hyperthyroidism. Twenty-seven percent of the Down syndrome cohort had mildly increased thyrotropin (TSH) and normal thyroxine levels. When compared with children with Down syndrome who had normal TFTs, no significant differences in sex, growth rate, maternal age, associated anomalies, developmental or specific thyroid symptoms were present. Transient elevations of TSH level were common in children with Down syndrome whether or not TSH values were initially normal or elevated. Routine neonatal and sequential thyroid screening in young children with Down syndrome is warranted.
Toriello-Carey is a rare multiple malformation/mental retardation syndrome characterized by dysmorphic features, including telecanthus/hypertelorism, short palpebral fissures, a small nose with anteverted nares, malformed ears, and a Pierre Robin sequence. Affected patients also show several other important signs of midline field disruption: agenesis of the corpus callosum, laryngeal anomalies, and congenital heart defects. Hypotonia and developmental delay are present in most reported cases. Autosomal recessive inheritance was proposed, but an X-linked or sex-influenced gene disorder was also suspected. We report on two siblings, a brother and sister, supporting further an autosomal recessive type of inheritance. Both patients had severe clinical presentation with death in early infancy. Besides clinical findings typical for this condition, they showed additional traits, expanding further the phenotypic spectrum. A specific malformation pattern observed in the patients presented and, in the previously reported cases, suggests an early midline developmental field disruption, presumably caused by a developmental regulatory gene mutation.
BACKGROUND: Hyperlexia is the phenomenon of spontaneous and precocious mastery of single-word reading that has been of interest to clinicians and researchers since the beginning of the last century. METHODS: An extensive search of publications on the subject of hyperlexia was undertaken and all available publications were reviewed. RESULTS: The literature can be subdivided into discussions of the following issues: (1) whether hyperlexia is a phenomenon that is characteristic only of specific clinical populations (e.g., children with developmental delays) or whether it can also be observed in the general population; (2) whether hyperlexia is a distinct syndrome comorbid with a number of different disorders or whether it is a part of the spectrum of some other clinical condition(s); (3) whether hyperlexia should be defined through single-word reading superiority with regard to reading comprehension, vocabulary, general intelligence, any combination of the three, or all three characteristics; (4) whether there is a specific neuropsychological profile associated with hyperlexia; (5) whether hyperlexia is characterized by a particular developmental profile; and (6) whether hyperlexia should be viewed as a disability (deficit) or superability (talent). CONCLUSIONS: We interpret the literature as supporting the view that hyperlexia is a superability demonstrated by a very specific group of individuals with developmental disorders (defined through unexpected single-word reading in the context of otherwise suppressed intellectual functioning) rather than as a disability exhibited by a portion of the general population (defined through a discrepancy between levels of single-word reading and comprehension). We simultaneously argue, however, that multifaceted and multi-methodological approaches to studying the phenomenon of hyperlexia, defined within the research framework of understanding single-word reading, are warranted and encouraged.
Cerebral cortical morphology and early motor development were evaluated in offspring from ethanol-exposed mothers, pairfed control mothers and ad libitum control rats. Ethanol-exposed rats received a total dose of 18 g/kg of ethanol by intubation on gestational Days 14 and 15, a critical period of development of the cerebral cortex. Pairfed control mothers received isocaloric sucrose on gestational Days 14 and 15 and were pairfed to ethanol-exposed animals from gestational Day 12 through gestational Day 20. Ethanol-exposed offspring weighed significantly less than control offspring from postnatal Day 7 through postnatal Day 28. Ethanol-exposed offspring also showed significant delays in reflex suspension (time an animal maintained its grip on a crossbar) and continuous corridor (number of turns in 5 min). The thickness of the cerebral cortex of ethanol-exposed offspring was significantly different from ad libitum and pairfed control offspring on postnatal Day 1. However, only Layer V and total cortical thickness were affected in ethanol-exposed offspring on postnatal Day 28. The results of this study indicate that ethanol exposure during a critical period of development causes alterations in central nervous system development and developmental delays.
We report on two boys with a combination of short stature, a broad face, macrodontia and developmental delay. These features suggest that they have the KBG syndrome, a rare but distinctive phenotype. The pattern of inheritance remains uncertain and both autosomal dominant and X-linked recessive inheritance should be considered in genetic counselling.
To determine the frequency of chromosomal abnormalities in a child psychiatric population, and to evaluate possible associations between types of abnormalities and patient's clinical characteristics, cytogenetic examination was performed on 604 patients. Demographic data, reasons for karyotyping, clinical signs, and other patient characteristics were assessed and correlated with the results from karyotyping. Chromosomal abnormalities were found in 69 patients (11.3%); these were structural in 49 cases and numerical in 20. Inversion of chromosome nine was found in 15 subjects, trisomy of chromosome 21 in 11, and fragile X in five patients. When karyotyping was performed because of intellectual impairment or multiple developmental delay, significantly more abnormalities were found than average; when performed because autistic disorder was suspected, the number of abnormalities was significantly fewer. There were no differences in clinical variables between structural and numerical abnormalities, nor among nine types of chromosomal abnormalities, except that numerical abnormalities and polymorphism were found at a later age, and that walking was more delayed and IQ was lower in patients with Down syndrome. Clinicians should be aware of the possible presence of chromosomal abnormalities in child psychiatric populations; the close collaboration with geneticists and the use of more defined guidelines for cytogenetic investigation are important.
We describe a 4 month old male with a de novo interstitial deletion of chromosome 10q22. His clinical features included growth deficiency, developmental delay, ocular hypertelorism, posteriorly rotated ears, retrognathia, and fifth finger clinodactyly. He later developed dental lamina cysts of the alveolar ridge. To our knowledge, this is the first reported case of an interstitial deletion of 10q22.
Studies of the model organism Caenorhabditis elegans have almost exclusively utilized growth on a bacterial diet. Such culturing presents a challenge to automation of experimentation and introduces bacterial metabolism as a secondary concern in drug and environmental toxicology studies. Axenic cultivation of C. elegans can avoid these problems, yet past work suggests that axenic growth is unhealthy for C. elegans. Here we employ a chemically defined liquid medium to culture C. elegans and find development slows, fecundity declines, lifespan increases, lipid and protein stores decrease, and gene expression changes relative to that on a bacterial diet. These changes do not appear to be random pathologies associated with malnutrition, as there are no developmental delays associated with starvation, such as L1 or dauer diapause. Additionally, development and reproductive period are fixed percentages of lifespan regardless of diet, suggesting that these alterations are adaptive. We propose that C. elegans can exist as a healthy animal with at least two distinct adult life histories. One life history maximizes the intrinsic rate of population increase, the other maximizes the efficiency of exploitation of the carrying capacity of the environment. Microarray analysis reveals increased transcript levels of daf-16 and downstream targets and past experiments demonstrate that DAF-16 (FOXO) acting on downstream targets can influence all of the phenotypes we see altered in maintenance medium. Thus, life history alteration in response to diet may be modulated by DAF-16. Our observations introduce a powerful system for automation of experimentation on healthy C. elegans and for systematic analysis of the profound impact of diet on animal physiology.
Eight children (four boys and four girls) with extreme failure to thrive, dysmorphic features, developmental delay, hypoparathyroidism, and abnormal skeletal survey were studied. They were the products of seven consanguinous marriages, two of the patients being brothers. In the remaining six families, a further four children had affected siblings who had died in infancy. When assessed the children were aged 0.47-12.8 years; SD scores were less than -2 for height, weight, and head circumference in all patients. The children had identical facies with deep set eyes, depressed nasal bridge with beaked nose, long philtrum, thin upper lip, micrognathia, and large floppy earlobes. They were all developmentally retarded. The following abnormalities were found on investigation: hypocalcaemia in all (of whom six of seven had hypoparathyroidism), medullary stenosis and other skeletal survey defects in seven of the eight children, and reduced numbers of T cell subsets in four of four tested. We believe that these children represent a new, as yet undescribed genetically determined syndrome.
OBJECTIVES: Increased survival in infants with complex congenital heart defects (CHDs) has resulted in greater focus on morbidity. This prospective study was conducted to investigate whether or not neuromotor impairments evident acutely persist long-term. STUDY DESIGN: A total of 94 infants with CHD were reassessed at school entry (age 64.2 +/- 11.3 months) by blinded examiners using the Peabody Developmental Motor Scale and neurologic examination. RESULTS: Neurologic abnormalities were noted in 28.4% of the subjects, with hypotonia and developmental delay most commonly observed. Microcephaly was documented in 15.4% of subjects, with head circumference >50th percentile in only 14.1%. Mean gross and fine motor quotients were shifted downward (82.7 +/- 12.3 and 86.2 +/- 16.3, respectively), and gross and fine motor delays were prevalent (49.4% and 39.0%, respectively). Severe disability was rare (<5%). Predictors of neurologic impairment included type of surgery (palliative/corrective), abnormal postoperative neurologic examination, and presence of microcephaly at initial surgery. Gross motor delay was more likely if palliated. Deep hypothermic circulatory arrest time, palliative surgery, microcephaly, and number of hospitalizations were associated with fine motor delay. CONCLUSIONS: Neurologic impairments and motor delay are common in survivors of open-heart surgery, persisting to age of school entry. Early indicators of medical complications and acute neurologic compromise are associated with increased risk. Early identification and intervention may optimize performance in those at risk.
OBJECTIVE: The 22q11 deletion syndrome is associated with a range of possible physical anomalies, probable ongoing learning disabilities, and a specific constellation of neuropsychological deficits, including impairments in selective and executive visual attention, working memory, and sensorimotor functioning. It has been estimated that 25% of the children with 22q11 deletion syndrome go on to develop schizophrenia in late adolescence or adulthood. This is of urgent concern. Specification of early brain network vulnerabilities may provide a basis for early intervention while indicating critical links between genes and severe psychiatric illness. Neuropsychological studies of children with 22q11 deletion syndrome have implicated an array of potentially aberrant brain pathways. This study was conducted to determine whether preattentive processing ("sensorimotor gating") deficits are present in this population. METHOD: The authors administered a test of prepulse inhibition to 25 children with 22q11 deletion syndrome and their 23 sibling comparison subjects, ages 6-13. It was predicted that the children with 22q11 deletion syndrome would have lower prepulse inhibition than the comparison subjects. RESULTS: Prepulse inhibition in the children with 22q11 deletion syndrome (26.06%) was significantly less than that of the sibling comparison subjects (46.41%). Secondary analyses suggested that this decrement did not reflect developmental delay, and lower prepulse inhibition was associated with particular subsyndromal symptoms in some children. CONCLUSIONS: Sensorimotor gating is lower in children with 22q11 deletion syndrome. These findings may indicate specific brain circuits that are anomalous in 22q11 deletion syndrome.