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PubMed2000

Mutations in the laminin alpha2-chain gene in two children with early-onset muscular dystrophy.

We investigated two children who presented with delayed motor milestones. The first was a girl who was referred at 20 months because of developmental delay. She walked at 28 months and currently, aged 5 years, is independently mobile but has difficulty rising from the floor or going upstairs. The second was also a girl who presented at 6 weeks of age with hypotonia. Her motor milestones were delayed and she walked at the age of 2 years and 8 months and is currently independently mobile at the age of 3 years. Serum creatine kinase was elevated and a muscle biopsy showed dystrophic changes in both children. Immunohistochemistry of the laminin alpha2 chain of merosin was very similar in both cases: using a C-terminal antibody that recognizes an 80 kDa fragment, there was a mild reduction in expression on most fibres, while the staining with another antibody that recognizes a 300 kDa fragment showed a very marked reduction. Mutational analysis of the laminin alpha2 chain gene in the first patient showed that one of the two alleles had a de novo single nucleotide deletion at position 5702, causing a frameshift. In the other allele, we identified two point mutations present in cis; one was a G-->C transition at position +5 while the second was a T-->C transition at position +6 of the conserved donor splicing consensus sequence of introns 37 and 63, respectively. Transcription analysis of the corresponding cDNA region did not show any alternative splicing occurring as a result of these splice site mutations. Therefore, these mutations probably affect the splicing efficiency. Interestingly, the second child carried in both alleles the same two splicing consensus sequence mutations found in cis in the first patient. Our data provide further evidence that mutations in the laminin alpha2 chain gene are responsible not only for the severe form of congenital muscular dystrophy with onset at birth, but also for milder phenotypes, with later onset, in which the synthesis of a partially functional protein, or of a normal protein but in reduced quantity, is possible. The finding that these two unrelated patients had the same unusual mutation in common might suggest that this is a relatively commonly allele responsible for partial merosin deficiency in the UK.

Age of Onset↗

PubMed1993

Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome).

In 1975 Say et al. (Humangenetik 26:267-269) reported on a new dominantly inherited syndrome of cleft palate, short stature, microcephaly, large ears, and hand anomalies in 4 members of a family. This is a report of a 13-month-old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay. This case appears to be the second report of this syndrome which presumably occurred as a new mutation in this family.

Abnormalities, Multiple↗

PubMed2005

Behavioral and developmental characteristics of children with inversion of chromosome 9 in Korea: a preliminary study.

The purpose of this study is to examine the behavioral and developmental characteristics of children with inv(9). This case control study included 12 inv(9) subjects and 45 normal students. All of the subjects, together with their parents, underwent a psychiatric interview and parent questionnaire consisting of a Child Behavior Checklist (CBCL). The mean scores with regard to the social problems and total problems profiles of the CBCL were significantly higher in the inv(9) group than in the normal control group. The inv(9) group exhibited language and motor developmental delay. These findings suggest that there is a possibility of inv(9) being associated with child developmental or behavioral problems.

Child↗

PubMed2005

UVB radiation prevents skeleton growth and stimulates the expression of stress markers in sea urchin embryos.

Ozone depletion results in an increased flux of biologically damaging radiations reaching the earth. Although ultraviolet (UV) penetration is attenuated by the seawater, harmful effects can be still observed at low depths where sea urchin embryos are living. We have used Paracentrotus lividus embryos to study the impacts of UV radiation on their development. Blastula cultures were exposed to different doses of UVB (312 nm) radiations and the resulting endpoint effects were evaluated in terms of embryonic morphological abnormalities, variations in specific gene expression, and changes in the levels of stress proteins. We found that embryos were moderately sensitive to 50 J/m2 UVB radiation; an increase in the number of developmentally delayed and malformed embryos was detected when increasing doses, up to 1000 J/m2, were used. Major developmental defects, observed 24 and 48 h after exposure, consisted in the failure of skeleton elongation and patterning. Accordingly, we found a reduction in the number of primary mesenchyme cells that expressed Pl-SM30, a gene coding for one of the specific matrix proteins of the skeleton. The morphological effects observed 1, 24, and 48 h after exposure were correlated with a dose-dependent increase in the level and in the activation of two recognized stress markers, namely hsp70 and p38 MAPk, respectively, consistent with their role in mediating cellular response to stress and suggesting a function in embryo survival.

Abnormalities, Radiation-Induced↗

PubMed2000

Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital neurocutaneous syndrome comprising unilateral cranial lipomas, lipodermoids of the eye and brain abnormalities. A 3-year-old boy who presented at birth with a scalp lipoma and an ipsilateral epibulbar lipodermoid is described. Infantile spasms developed at 9 months of age and cerebral imaging showed thickened and calcified cortex at the right occiput and hemiatrophy of the right hemisphere. These features were consistent with ECCL. Most children with ECCL have significant developmental delay, but we have found that control of seizures was associated with a significant improvement in developmental outcome.

Brain↗

PubMed1994

Impact of developmental problems on young children's exits from foster care.

Children entering foster care are often described as having multiple problems, although there are surprisingly few comprehensive baseline descriptions of children as they enter care. Further, few studies have examined the interactions among baseline characteristics, physical and mental health problems, and their joint influence on the likelihood that a child will remain in care. The purpose of this study was to investigate the relationship of physical and developmental problems identified shortly after the children entered substitute care to the likelihood of their remaining in care. Data for these analyses came from 272 children (ages 1 month to 7 years) seen at the Foster Care Clinic in Waterbury, Connecticut, between November 1985 and December 1989. All children received a complete physical health assessment and developmental screening upon entry into care. The outcome variable, children's placement status as of September 1990, was confirmed through the Social Services Agency's records. Results indicate that children in foster care commonly showed developmental delays (53%). Further, those who were older at entry into care and nonwhite and who had developmental problems identified were 1.93 times more likely to remain in foster care. Given these findings, early comprehensive assessment for children entering foster care is strongly recommended.

Adoption↗

PubMed1993

Angelman syndrome.

BACKGROUND: Angelman (happy puppet) syndrome is a neuro-developmental condition characterized by an ataxic gait with puppet-like limb movements, paroxysmal bouts of laughter and severe mental retardation. Although considered a rare condition, over 140 cases have been documented since its designation in 1965. To date, only one study has been published investigating the ocular defects of Angelman syndrome. METHODS: In this paper we report the cognitive, motor, systemic, and oculo-visual findings of a 3 year old child with Angelman syndrome. RESULTS: The oculo-visual findings include choroidal hypopigmentation, iris hypopigmentation, strabismus, and hyperopia. CONCLUSIONS: As in many neuro-developmental conditions, early diagnosis is crucial. The ocular findings of fundal/iris hypopigmentation and strabismus with minimal refractive error in conjunction with the cognitive, behavioral, and motoric characteristics the patient exhibits may be the first clues for the diagnosis of Angelman Syndrome in a developmentally delayed child. The initiation of individualized optometric diagnosis and treatment is important for all children with developmental disabilities. The eye care professional should work in concert with speech, occupational, and physical therapists, neurologists, and special educators in the multi-disciplinary treatment and habilitation of all children with disabilities including those with Angelman Syndrome.

Angelman Syndrome↗

PubMedDate not supplied

The correspondence between temperament and peer interactions for normally developing and mildly delayed preschool children.

The correspondence between temperament characteristics based on the Behavioural Style Questionnaire and the peer relations of normally developing and mildly developmentally delayed preschool-age children was examined in this study. Measures of the peer relations of 64 3- and 4-year-old boys were obtained through an analysis of children's social interactions in a series of specially designed playgroups. Maternal temperament ratings were found to be similar for the younger (3-year-olds) and older (4-year-olds) normally developing children as well as for the mildly delayed group (4-year-olds). Multiple regression analyses indicated that maternal-rated temperament dimensions of persistence and activity level were associated in a logical pattern with both the positive and negative aspects of children's peer relations. Issues related to the construct validity and situation-specificity of the temperament measure were discussed.

Child, Preschool↗

PubMed2000

Brain volume in children with neurofibromatosis type 1: relation to neuropsychological status.

OBJECTIVE: To determine characteristics of brain morphology in children and adolescents with neurofibromatosis type 1 and relate these characteristics to neuropsychological functioning. BACKGROUND: Neurofibromatosis type 1 is associated with numerous CNS abnormalities and cognitive impairment. Abnormal high signal intensity visible on brain MRI, brain tumors, and macrocephaly are common. Research into links between neuroanatomic and cognitive features has been inconclusive. METHODS: Fifty-two children and adolescents with neurofibromatosis type 1 were compared with 19 control subjects on several quantitative neuroanatomic and neuropsychological measures. RESULTS: Total brain volume, especially gray matter, was significantly greater for neurofibromatosis type 1 subjects than the control subjects. Group differences in the ratio of gray matter to white matter were more prominent in younger than in older subjects. Volume of gray matter in the subjects with neurofibromatosis type 1 was related to their degree of learning disability. Corpus callosum size was significantly larger for subjects in the neurofibromatosis type 1 group, and diminished performance on measures of academic achievement and visual-spatial and motor skills were associated with greater regional corpus callosum size. CONCLUSIONS: Neuroanatomic morphology and the developmental pattern of gray matter and white matter in subjects with neurofibromatosis type 1 differed from in control subjects. Some of these differences are related to the neuropsychological status of the neurofibromatosis type 1 group. We propose that delayed developmental apoptosis results in macrocephaly and a delay in the development of appropriate neuronal connections in children with neurofibromatosis type 1. We further propose that these morphologic delays are related to the cognitive profile of neurofibromatosis type 1.

Adolescent↗

PubMed1995

Delayed myelination in infants and young children: radiographic and clinical correlates.

Magnetic resonance imaging (MRI) is the best method for assessing myelination in infants and young children. Although delayed myelination is a common neuroradiologic diagnosis, there are few or no data regarding the reliability of this diagnosis or radiographic and clinical findings in cohorts of such patients. We evaluated the cranial MRI scans of 109 patients from age 0 to 36 months, without knowledge of any patient's age or previous clinical or radiologic diagnosis. For each cranial MRI, seven neuroradiologic landmarks were evaluated and established criteria used to assess the state of myelination. We found that in 12 of 109 patients, delayed myelination was misdiagnosed, whereas the diagnosis of delayed myelination was missed in four other patients. Lack of familiarity with the myelination milestones of infancy was the most common reason for a misdiagnosis of delayed myelination. Failure to recognize delayed myelination was due to a failure to appreciate the forceps minor as a landmark. Overall, the diagnosis of delayed myelination was inaccurately applied or missed in 15% of the patients in this series. Of the 14 patients identified as having delayed myelination, 10 had other central nervous system structural abnormalities seen on MRI, most commonly cortical atrophy. Developmental delay was the most common clinical correlate of delayed myelination and was documented in 12 of the 14 patients. To increase the reliability of neuroradiologic assessments in young children, we propose that central nervous system myelin maturation be evaluated and expressed as a myelination age equivalent, analogous to the assessment of pediatric bone age using conventional radiographs.(ABSTRACT TRUNCATED AT 250 WORDS)

Atrophy↗

PubMed2001

Comparison of the 1969 and 1993 standardizations of the Bayley Mental Scales of Infant Development for infants with Down's syndrome.

The Bayley Scales of Infant Development (BSID) were re-standardized in 1993 (BSID-II). The present study reports a comparison of the two versions with infants with Down's syndrome (DS). The BSID-II was used for 93 assessments of 54 children with DS (age range = 7-43 months). Comparisons were made with the 1969 standardization for 42 of these assessments, and for 45 assessments of 20 typically developing children aged between 6 and 24 months. The 1993 standardization produced significantly lower mean differences of 1.0 months mental age and 8.4 points mental development index for infants with DS, and 1.5 months mental age and 9.2 points mental development index for the typically developing group. Nineteen per cent more infants with DS had scores below two standard deviations and there was a larger decrement for lower functioning children. Both groups of children have to perform at a higher level to achieve the same relative score on BSID-II compared to BSID. This indicates that caution should be used in comparing cohorts of children tested on different versions of the Bayley scales. In addition, concerns are highlighted regarding the rules for establishing basal and ceiling levels for BSID-II for children with developmental delays.

Child, Preschool↗

PubMed2006

Developmental dissociation, deviance, and delay: Occurrence of attention-deficit-hyperactivity disorder in individuals with and without borderline-to-mild intellectual disability.

A neurodevelopmental model for understanding the spectrum of developmental disabilities postulates that developmental delay, dissociation, and deviance reflect underlying central nervous system dysfunction. In this study, we determined the occurrence of the dissociated and developmentally deviant behavioral profile of attention-deficit-hyperactivity disorder (ADHD) among children with and without developmental cognitive delays (borderline-to-mild intellectual disability) in a population-based birth cohort (n = 5718). Among the 70 children identified to have borderline-to-mild intellectual disability, 30% (n = 21; 7 females, 14 males) met research criteria for ADHD, compared to only 6.4% of children without intellectual disability (n = 358; 88 females, 270 males). The odds ratio for comorbid ADHD for children with versus without borderline-to-mild intellectual disability was 6.3 (95% confidence interval: 3.7-10.6; p < 0.001). These data illustrate that developmental dissociation and/or deviance, as represented by ADHD, are more likely to occur in the context of developmental delay, represented by borderline-to-mild intellectual disability.

Attention Deficit Disorder with Hyperactivity↗

PubMed1979

[The Exeter program of home visits by "developmental therapists". Suggestions on the procedure to follow in the presence of severe handicap in a child of less than 3 years].

The principal idea expressed in this paper is that there is a period of time between the birth of a child with a severe handicap and the realization of the parents that the child may need their specific individual attention to his general development because of that handicap: that this coincides with the period of time usually taken by doctors for diagnosis of all the aspects contributing to the developmental delay; that these periods are both likely to be two to three years. Intervention by a competent developmental therapist working weekly in the home is of specific aid to the infant, to the parents and to the doctor during this period.

Child Development↗

PubMed2003

EXT gene family member rib-2 is essential for embryonic development and heparan sulfate biosynthesis in Caenorhabditis elegans.

EXT gene family members including EXT1, EXT2, and EXTL2 are glycosyltransferases required for heparan sulfate biosynthesis. To examine the biological functions of rib-2, a member of the Caenorhabditis elegans EXT gene family, we generated a mutant worm lacking the rib-2 gene using the UV-TMP method followed by sib-selection. Inactivation of rib-2 alleles induced developmental abnormalities in F2 and F3 homozygous worms, while F1 heterozygotes showed a normal morphology. The F2 homozygous progeny generated from the F1 heterozygous hermaphrodites somehow developed to adult stage but exhibited abnormal characteristics such as developmental delay and egg-laying defects. The F3 homozygous progeny from the F2 homozygous hermaphrodites showed early developmental defects and most of the F3 worms stopped developing during the gastrulation stage. Whole-mount staining analysis for heparan sulfate using Toluidine blue (pH 2.5) revealed a defect of heparan sulfate biosynthesis in the F2 homozygotes. The analysis using fluorometric post-column high-performance liquid chromatography also uncovered reduced production of heparan sulfate in the rib-2 mutant. These results indicate that rib-2 is essential for embryonic development and heparan sulfate biosynthesis in C. elegans.

Animals↗

PubMed1992

External ventricular drainage for treatment of rapidly progressive posthemorrhagic hydrocephalus.

Twenty-seven newborn infants (birth weight, 1503 +/- 776 g; gestational age, 31 +/- 3 wk) (mean +/- standard deviation) with rapidly progressive posthemorrhagic hydrocephalus and increased intracranial pressure were treated by external ventricular drainage. The progression of hydrocephalus was arrested during the drainage period in each patient. The drainage was kept in place for 23 +/- 9 days, the longest drainage period being 48 days. In 16 of 23 surviving patients, progressive ventricular dilation recurred after removal of the drainage, requiring a definitive shunt implantation (nine ventriculoatrial, seven ventriculoperitoneal). For the remaining seven infants, no further therapy was necessary. Implantation of the permanent shunt was done days 28 to 88 (body weight, 2400 +/- 950 g). Bacterial cultures from cerebrospinal fluid and/or the tip of the ventriculostomy catheter were negative in 175 instances and positive in 11 instances (7 patients). No clinical or biochemical evidence of ventriculitis was noted. Four of the 27 patients died of causes unrelated to external ventricular drainage. Twenty-three infants survived. Seventeen of 23 survivors suffered from intraventricular hemorrhage Grade 3; in 7, neurological and developmental outcomes were classified as normal; 9 patients experienced mild to moderate paresis and/or mild to moderate developmental delay; and only 1 patient was severely retarded. Six patients with parenchymal lesions had severe motor and/or developmental handicaps. We consider external ventricular drainage an effective and safe therapy in newborn infants with rapidly progressive posthemorrhagic hydrocephalus and increased intracranial pressure. The ultimate outcome, however, depends mainly on the mode and the extent of the primary brain lesion.

Brain Damage, Chronic↗

PubMedDate not supplied

[Aids neurologic manifestations in childhood].

INTRODUCTION: Children with AIDS get infected mainly by vertical transmission. DEVELOPMENT: That was what happened in 90% of the cases in a series of 340 HIV+ children followed at Hospital de Clínicas de Porto Alegre, Brazil. Currently, after the use of prophylactic treatment during pregnancy and the six first weeks of life, our transmission rate is 3% to 4%. The incidence of neurologic complications in the vertical transmission group was 49% in our prospective series, and due either to immunosuppression or primary neurological disease. Neurologic changes secondary to HIV constitute a complex syndrome, manifested by various degrees of cognitive, motor and behavioral delay. Encephalopathy can be either progressive or static. In our series, encephalopathy occurred in 32.5% of cases, developmental delay in 42.5%, seizures in 6%, speech delay in 5%, headaches in 2.5% and behavioral disorders in 2%. Central nervous system infections happened in 33.8% of our cases: acute bacterial infections in 11%, cytomegalovirus in 6.8%, toxoplasmosis in 5.9%, cryptococcal in 5%, tuberculous in 3.8% and syphilis in 1.3%. Hemorrhagic cerebrovascular accidents were seen in 2.5% of our cases, and peripheral neuropathy in 5%. Seventy percent of our cases had abnormalities in the CSF, 75% in brain CT scans and 45% in EEGs. CONCLUSIONS: Treatment of children with AIDS and neurologic manifestations was based on specific drugs aimed at controlling viral replication. Best response was obtained with combined use of AZT and other anti-retroviral neuro-protective.

AIDS Dementia Complex↗

PubMed2001

Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children.

Angelman syndrome (AS) is a genetic disorder associated with severe developmental delay. The purpose of this study was to investigate cognitive and linguistic development in AS. Piaget's developmental model was used to evaluate the test results. The participants comprised 20 children (14 boys and 6 girls) aged 2-14 years (median age 7.4 years). AS was diagnosed either according to typical clinical criteria or confirmatory genetic testing. Cognitive functioning was evaluated with Griffiths' Mental Development Scale. Language development was also evaluated with Receptive-Expressive Emergent Language Scale 2 (REEL-2). Cognitive functioning, based on results on the Performance Scale, never exceeded Piaget's sensorimotor stage, 0-2 years. The median mental age for language development was 9 months. Expressive verbal vocabulary consisted of less than 2 words (n = 11), 2-3 words (n = 7) and 4-5 words (n = 2). Analyses according to REEL-2 did not indicate a consistent discrepancy between impressive and expressive language.

Adolescent↗

PubMedDate not supplied

Developmental outcomes at one and two years of children conceived by intracytoplasmic sperm injection.

BACKGROUND: Present opinions regarding developmental delay of children conceived with intracytoplasmic sperm injection (ICSI) are variable and without consensus. METHODS: We compared developmental outcome at 1 and 2 years of 50 children conceived by ICSI with 51 spontaneously conceived children. Assessments were performed using the Bayley Scales of Infant Development for motor and mental development and quality of behavior, and the CARE-Index for the quality of parent-child interaction. RESULTS: No difference was present in the motor and mental development of study and control groups, as assessed by the Bayley Scales. However, 1-year-old ICSI children had lower Behavioral Index scores than controls in the "Motor Quality" item (p = 0.04). Regarding interaction with parents, ICSI families had lower "father cooperation" CARE-Index scores (p = 0.02) and lower sensitivity scores (p = 0.007). No significant differences were present between study and control groups for the 2-year-old children. CONCLUSIONS: ICSI conceived children develop normally. When assessed by the Bayley Scales of Infant Development and the CARE-Index, the differences in quality of development and social interaction observed at 1 year of age had no negative effect on the overall level of development, and appeared to be related to developmental processes of the entire family unit rather than to ICSI-related biological effects. Observed differences dissipated with familial adaptation and were not observed at 2 years of age.

Adult↗