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PubMed2005

TrkB signaling regulates the developmental maturation of the somatosensory cortex.

In the rodent central nervous system, the region of the cortex that responds to facial whisker stimulation is anatomically segregated into discrete regions called barrels. Each barrel is made up of layer IV cortical neurons that receive input from a separate whisker via innervation from the thalamus. It has been shown that neurotrophins play important roles in the development and plasticity of thalamic axon innervation into the visual and retrosplenial cortex. We now extend those findings to the investigation of the role of neurotrophin signaling in barrel cortex formation. We show that the neurotrophin receptor TrkB is expressed in the thalamus and cortex during the time of cortical innervation. The two TrkB ligands, brain derived neurotrophic factor (BDNF) and neurotrophin-4 (NT-4), are expressed in the cortex at this time. Mice lacking TrkB demonstrate a developmental delay in the segregation of thalamic axons within barrels. In TrkB mutants, thalamic axons are abnormally uniform within layer IV of the cortex at postnatal day 4 compared to their control littermates, but show clear segregation into barrels 2 days later. This phenotype is recapitulated in BDNF mutant mice, but not in NT-4 mutant mice. These results demonstrate that BDNF is the sole TrkB ligand responsible for this phenotype. Analysis of conditional knockout mice that lack TrkB within the cortex, and not the thalamus, does not show a delay in thalamic axon segregation. These results indicate that TrkB expression in thalamic axons is important for the appropriate timing of barrel cortex development.

Afferent Pathways↗
PubMed2001

Links between social understanding and social behavior in verbally able children with autism.

This study investigated the relations between various measures of social understanding and social interaction competence in verbally able children with autism. Measures of social understanding included measures of verbalizable knowledge (false belief understanding, affective perspective taking), as well as measures of more intuitive forms of social responsiveness (empathy, concern to distress, and initiating joint attention). Two measures of social interaction competence were employed: level of engagement with peers on the playground, and prosocial behavior in a structured laboratory task. For children with autism, initiating joint attention and empathy were strongly related to both measures of social interaction competence. No understanding-behavior links were identified for a language-age matched comparison sample of developmentally delayed children. Several accounts of these understanding-behavior links are considered, including the possibility that for children with autism, more impaired forms of understanding are more closely linked to behavior because they serve as limits on competence.

Adolescent↗
PubMed2001

Childhood speech disorders: reported prevalence, comorbidity and socioeconomic profile.

OBJECTIVE: To describe the reported prevalence, comorbidity and socioeconomic status (SES) of children with speech disorders. METHODOLOGY: Data from the 1995 Australian Health Survey were used. Information relating to the health of 12 388 children aged 0-14 years was collected via face-to-face interviews with a responsible adult. Speech disorders were recorded if children had reported difficulty talking, producing speech sounds, or who stuttered. RESULTS: The prevalence of childhood speech disorders (CSD) was 1.7% (n = 209). Of this group, 25.8% (n = 54) had a developmental delay or intellectual impairment; when these were excluded, the prevalence of CSD was reduced to 1.3% (n = 155). Among males, the peak prevalence occurred at age 5 (6.5%), for females the highest rates were for 3-4-year-olds (1.8%). Children with a speech disorder had a greater number of additional health problems. No relationship was found between SES and CSD. CONCLUSIONS: Children with speech disorders often have complex health and developmental needs. Developing effective prevention programs with a view to improving the long-term health and social outcomes of these children will require a mix of individual (clinical) and population-based (public-health) strategies.

Adolescent↗
PubMed1997

Möbius-like syndrome associated with a 1;2 chromosome translocation.

We report here a rare case of Möbius-like syndrome associated with a 1;2 chromosome reciprocal translocation (46,XY,t(1;2)(p22.3;q21.1). The patient had facial diplegia, ptosis, anteverted nostrils, malformed and lowset ears, and slight developmental delay. Since a microdeletion could be present at the breakpoint in a reciprocal translocation, it is possible that the gene responsible for Möbius syndrome is located in this region of chromosome 1.

Chromosomes, Human, Pair 1↗
PubMed1996

De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)].

OBJECTIVE: To report a new case of de novo 7q deletion distal to q35. METHODOLOGY: Developmental, cytogenetic and audiological investigations were carried out in the assessment of this rare chromosomal condition. RESULTS: Moderate developmental delay, mild congenital microcephaly, growth retardation and conductive hearing impairment were found for this case of 46,XX,del(7)(q35). CONCLUSIONS: The phenotype of 7q terminal deletion is highly variable.

Abnormalities, Multiple↗
PubMed1993

School achievement and school adaptation in children in relation to CNS development as assessed by a complex reaction time measured on school entry--a follow-up.

Schoolchildren aged seven years underwent a complex reaction time (CRT) measurement and were followed up regarding language achievements and performance in gymnastics during the nine years of compulsory school. An analysis was made of the correlation between school results and CRT findings. In grade 3, there were large differences in psychomotor development between children with fast and slow CRT in both sexes. Only minor differences in school achievement were seen between girls in different CRT groups. Among the boys, however, many with a slow CRT were considered handicapped in language development, with dyslexia as the most important problem in addition to poor motoricity. They left compulsory school with poor results in Swedish, their native language, and gymnastics, and with a certificate that may reduce their changes of future studies and employment. The boys in general were inferior to the girls. The slow CRT boys, who were mainly considered to be developmentally delayed, also carried a risk of social maladjustment. It would appear to be important that psychophysical maturity receives attention at school, in addition to emotional and social factors. The school health services have an important responsibility in this respect.

Achievement↗
PubMed1987

A girl with the Weaver syndrome.

A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.

Abnormalities, Multiple↗
PubMed2006

Neuroradiologic findings in Sotos syndrome.

Sotos syndrome is a well-known anomaly syndrome characterized by overgrowth, characteristic facial gestalt, and developmental delay, and haploinsufficiency of the NSD1 gene has been revealed as one of the major genetic causes. However, there have been only a few reports on neuroradiologic findings by computed tomography (CT) or magnetic resonance imaging (MRI), and functional examination of the brain has not been reported. We examined three cases with typical Sotos syndrome, which also were confirmed by genetic analysis with a specific probe for the NSD1 gene. The results of MRI showed the characteristic features that have been reported previously. The findings obtained by using single-photon emission computed tomography and magnetic resonance spectroscopy suggested an association between mental delay and behavioral tendency in Sotos syndrome and immaturity in frontal brain function.

Brain↗
PubMed1999

Management and short-term outcome of persistent hyperinsulinaemic hypoglycaemia of infancy (nesidioblastosis).

BACKGROUND/AIM OF STUDY: Persistent hyperinsulinaemic hypoglycaemia is a rare metabolic disorder of glucose regulation. It is however the most common cause of persistent hypoglycaemia in the neonatal period. Various drugs have been used with generally poor results, but diazoxide and a long-acting somatostatin analogue, octreotide, have been found to be rather successful. When medical therapy fails, early pancreatectomy is recommended to maintain euglycaemia. Since pancreatectomy seems to carry the long-term risk of diabetes mellitus, some authors recommend long-term medical therapy as an alternative to surgery. The outcome of treatment seems to correlate with neurological status prior to surgery. Even in early recognised and treated patients, publications suggest that a subtle neurological deficit may be present despite apparently normal intelligence. In view of the varying recommendations on treatment and the variations in outcome, we reviewed our experience over a period of three years (1992-1995) to determine whether we could formulate a rational approach to the management. METHODS: From our records, we identified 8 children who fullfilled the criteria for the diagnosis of persistent hyperinsulinaemic hypoglycaemia of infancy and retrospectively reviewed their documents. We also included 2 more who presented to us during the study period. RESULTS: Two out of the 10 were born premature and four were considered large for gestational age, mean birth weight was 3679 gms (range 2580-4400 gms). All except three were symptomatic by day two of life. All except one were given hydrocortisone prior to transfer to our care at a mean age of 22 days (range 8-52 days). Our regime included a trial of diazoxide and octreotide. Near total pancreatectomy was performed in nine patients, seven following a short trial of octreotide. Our two most recent cases were given a longer trial of medical therapy of 9 and 6 months respectively prior to pancreatectomy. Our two early cases in the series had recurrence of hypoglycaemia within a week post-pancreatectomy. One still needed insulin therapy 5 months post-surgery. Seven were available for outcome assessment; while longitudinal growth is normal in all, three were developmentally delayed. CONCLUSION: Based on our experience with short and prolonged course of somatostation analogue, we conclude that early pancreatectomy should be performed on those with inadequate maintenance of euglycaemia while prolonged course of medical therapy is feasible only in selected cases.

Developmental Disabilities↗
PubMed1990

Di George anomaly and velocardiofacial syndrome.

The velocardiofacial syndrome is an autosomal dominant disorder characterized by cleft palate, cardiac anomalies, characteristic facies, and learning disabilities. The Di George anomaly involves developmental defects of the third and fourth pharyngeal pouches, resulting in thymic and parathyroid hypoplasia and cardiac defects. The cases of individuals in two families help substantiate the notion that the Di George anomaly occurs as a feature of the velocardiofacial syndrome. The proband in family 1 was a male infant with persistent hypocalcemia and cardiac defects consisting of truncus arteriosus, atrial septal defect, ventricular septal defect, and abnormal aortic arch vessels. Autopsy revealed absence of thymic and parathyroid tissue, and the Di George anomaly was diagnosed. His father had a submucous cleft palate, T cell dysfunction, and facial features consistent with the velocardiofacial syndrome. This is the third case of male-to-male transmission of velocardiofacial syndrome. The proband of family 2 was a 4-year-old girl with developmental delay, persistent neonatal hypocalcemia, ventricular septal defect, T cell dysfunction, and facial features of the velocardiofacial syndrome. The Di George anomaly has been reported to occur in at least 18 different disorders. The observation that the Di George anomaly is a component manifestation of the velocardiofacial syndrome in these two families provides further evidence that the Di George anomaly is not a distinct syndrome of a single origin but rather a heterogeneous developmental field defect. It is proposed that all previously reported cases of autosomal dominant Di George anomaly are examples of the velocardiofacial syndrome.

Adult↗
PubMed1988

Significance of minor abnormalities in children.

Minor abnormalities reflect problems in prenatal development and can provide useful clues to the presence of major anomalies or developmental problems. In a comparative study, children with Down's syndrome, as expected, had significantly more minor abnormalities than those with other syndromes or major anomalies and those with developmental delay and/or cerebral palsy of unknown etiology. These two groups were not significantly different from each other in the number of minor abnormalities, but both had significantly more abnormalities than the group of normal children.

Cerebral Palsy↗
PubMed1994

Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature.

Analysis of recent literature on Niemann-Pick disease type C (NPC) reveals a broad clinical spectrum with diverse neurological manifestations. Diagnosis and assessment are discussed. We present a case with symptomatology that is in concordance with a specific phenotype. The major clinical features are highlighted in a review of recently published cases. NPC could be underdiagnosed and we argue that in the work-up of progressive neurological disorders NPC should be seriously considered, at all ages, whenever there is any combination of visceromegaly, psychomotor deterioration, ataxia, vertical gaze disturbances or developmental delay. The Filipine staining of fibroblasts is a helpful asset in the diagnostic process, to be concluded with the detection of defective intracellular cholesterol esterification.

Adolescent↗
PubMed1984

Structural and functional perspectives on classification and seriation in psychotic and normal children.

This study describes a strategy for examining cognitive functioning in psychotic and normal children without the usual confounding effects of marked differences in cognitive structure that occur when children of the same age are compared. Participants were 14 psychotic children, 12 males and 2 females, mean age 9-2, matched with normal children at preoperational and concrete operational stage levels on a set of Piagetian classification tasks. The mean age of the normal children was 6-4, replicating the usually found developmental delay in psychotic samples. Participants were then compared on both structural level and functional abilities on a set of tasks involving seriation of sticks; the higher-level children were also administered a seriation drawing task. Analysis of children's processes of seriating and seriation drawings indicated that over and above the structural retardation, psychotic children at all levels showed functional deficits, especially in the use of anticipatory imagery. The implications for general developmental theory are that progress in structural development is not sufficient for imaginal development, and that structural development of logical concepts is relatively independent of the development of imagery. It was suggested that "thought disorder" may not be a disordered structure of thinking or a retardation in psychotic populations but rather a mismatch between higher-level logical structures and lower-level functions.

Autistic Disorder↗
PubMed1991

Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1].

A 27-month old boy with mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects was found to have an interstitial deletion of chromosome 18 involving band q12.1 or q12.3

Abnormalities, Multiple↗
PubMed1986

Auditory brain stem responses(ABR) in developmentally retarded infants and children.

We recorded ABR in 65 infants and children with developmental retardation and analyzed the relationship between the incidence of abnormal findings and the degree of mental retardation, which was confirmed by follow-up observation and formal intelligence tests. There were 3 cases for whom no response could be obtained. In the 21 retardates with specific causes of retardation or complications, peripheral abnormalities were noted in 13 (62%) and central abnormalities in 11 (52%). The 41 cases of idiopathic retardates were divided into three categories according to the degree of mental retardation. Of 15 cases who were ascertained to be normal or borderline retardates, 3 (20%) showed some abnormal findings. Of 13 cases who were proven to be suffering from mild to moderate mental retardation, 5 (38%) showed abnormal findings. Of 13 cases who were confirmed to be suffering from severe to profound mental retardation, 5 (39%) showed central abnormalities. The high incidence of ABR abnormalities in retardates compared to in normal controls suggests that ABR measurement is a useful tool for evaluating infants who have possible developmental delay. It seems that disturbance of acoustic information processing can disturb language acquisition, and such a consideration is necessary for the education of children who show significant elevation of the response threshold.

Adolescent↗
PubMed1995

A randomized clinical trial of home intervention for children with failure to thrive.

OBJECTIVE: To evaluate the efficacy of a home-based intervention on the growth and development of children with nonorganic failure to thrive (NOFTT). DESIGN: Randomized clinical trial. PARTICIPANTS: The NOFTT sample included 130 children (mean age, 12.7 months; SD, 6.4) recruited from urban pediatric primary care clinics serving low income families. All children were younger than 25 months with weight for age below the fifth percentile. Eligibility criteria included gestational age of at least 36 weeks, birth weight appropriate for gestational age, and no significant history of perinatal complications, congenital disorders, chronic illnesses, or developmental disabilities. Children were randomized into two groups: clinic plus home intervention (HI) (n = 64) or clinic only (n = 66). There were no group differences in children's age, gender, race, or growth parameters, or on any of the family background variables. Most children were raised by single, African-American mothers who received public assistance. Eighty-nine percent of the families (116 of 130) completed the 1-year evaluation. INTERVENTIONS: All children received services in a multidisciplinary growth and nutrition clinic. A community-based agency provided the home intervention. Families in the HI group were scheduled to receive weekly home visits for 1 year by lay home visitors, supervised by a community health nurse. The intervention provided maternal support and promoted parenting, child development, use of informal and formal resources, and parent advocacy. MEASUREMENTS: Growth was measured by standard procedures and converted to z scores for weight for height and height for age to assess wasting and stunting. Cognitive and motor development were measured with the Bayley Scales of Infant Development, and language development was measured by the Receptive/Expressive Emergent Language Scale. Both scales were administered at recruitment and at the 12-month follow-up. Parent-child interaction was measured by observing mothers and children during feeding at recruitment and at the 12-month follow-up, and the quality of the home was measured by the Home Observation Measure of the Environment 18 months after recruitment. ANALYSES: Repeated-measures multivariate analyses of covariance were used to examine changes in children's growth and development and parent-child interaction. Analyses of covariance were used to examine the quality of the home. Independent variables were intervention status and age at recruitment (1.0 to 12.0 vs 12.1 to 24.9 months). Maternal education was a covariate in all analyses. When changes in developmental status and parent-child interaction were examined, weight for height and height for age at recruitment were included as covariates. RESULTS: Children's weight for age, weight for height, and height for age improved significantly during the 12-month study period, regardless of intervention status. Children in the HI group had better receptive language over time and more child-oriented home environments than children in the clinic-only group. The impact of intervention status on cognitive development varied as a function of children's ages at recruitment, with younger children showing beneficial effects of home intervention. There were no changes in motor development associated with intervention status. During the study period, children gained skills in interactive competence during feeding, and their parents became more controlling during feeding, but differences were not associated with intervention status. CONCLUSIONS: Findings support a cautious optimism regarding home intervention during the first year of life provided by trained lay home visitors. Early home intervention can promote a nurturant home environment effectively and can reduce the developmental delays often experienced by low income, urban infants with NOFTT: Subsequent investigations of home intervention should consider alternative options for toddlers with NOFTT:

Child Development↗
PubMed2005

A comparison of Canadian and Australian paediatric occupational therapists.

Paediatric occupational therapists were surveyed regarding their practices in Canada and Australia. Two hundred and eighty-nine Canadian occupational therapists and 330 Australian occupational therapists participated representing response rates of 28.9% and 55% respectively. The majority of respondents were female (98%), between 30 and 49 years of age (69%), had a bachelor's degree, worked on average 10.5 years in paediatrics and spent well over 50% of their work time in direct client care. The largest client diagnostic groups in both countries were those with developmental delays, learning disabilities and neurological disorders. Diagnostic groups were used as an organizing framework to portray theory, assessment and intervention use. Overall, the theoretical models cited most frequently in both countries were: Sensory Integration, Sensory Processing/Sensory Diet, Client-Centred Practice, and Occupational Performance Model. Australian therapists employed the Occupational Performance Model (Australia) for all groups, while it was rarely utilized in Canada. Common assessment tools in both Australia and Canada were the Peabody Developmental Motor Scales, Developmental Test of Visual Motor Integration, and the Bruininks-Oseretsky Test of Motor Proficiency. Intervention methods focused on: parental/care-giver education; activities of daily living/self-care skills training; client education; environmental modification; assistive devices; sensory integration techniques; sensory stimulation and sensory diet treatment methods; and neurodevelopmental techniques.

Adult↗
PubMed1998

Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia.

OBJECTIVE: The objective of this study was to test the hypotheses that reduction of glycine and blocking of the N-methyl-D-aspartate receptor channel complex would be beneficial for both seizure reduction and developmental progress in patients with nonketotic hyperglycinemia. METHODS: We administered benzoate (at doses of 500 to 750 mg/kg/day) and dextromethorphan (at doses of 3.5 to 22.5 mg/kg/day) to four infants with nonketotic hyperglycinemia with follow-up of 3 months to 6 years. RESULTS: Benzoate reduced to normal the glycine concentration in plasma and substantially reduced but did not normalize the glycine concentration in cerebrospinal fluid. Dextromethorphan was a potent anticonvulsant in some but not all patients. There was remarkable interpatient variability in dextromethorphan metabolism. Three patients are living (ages ranging from 4 to 6 years) and are moderately to severely developmentally delayed; two are free of seizures. The third patient, with the slowest development, had intractable seizures for nearly a month before diagnosis, and although seizure-free for 30 months, now has grand-mal seizures. One patient died of intractable seizures at 3 months. CONCLUSIONS: These outcomes suggest that benzoate and dextromethorphan are not uniformly effective in nonketotic hyperglycinemia, but for some patients they improve arousal, decrease or eliminate seizures, and allow for some developmental progress. Trials with additional patients and other receptor channel blockers are warranted.

Amino Acid Metabolism, Inborn Errors↗