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PubMed1991

Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome?

During the course of a clinical study of Sotos syndrome, six out of 79 probands failed to fit the phenotype of Sotos syndrome but showed remarkable similarities to each other and to a further 11 first- and second-degree relatives. Clinical features in these index cases included macrocephaly, greater than +3.5 SD; normal or near normal birth weight and length with subsequent relative obesity; variable developmental delay; and typical face, characterised by a square outline with frontal bossing, a "dished-out" mid-face, biparietal narrowing, and long philtrum. All recorded bone ages were less than the 75th centile, and two were below the 10th centile. The authors believe the original diagnosis was incorrect and that these cases likely represent a previously undescribed autosomal dominant macrocephaly syndrome.

Adult↗

PubMed2005

Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region.

Recent reports of patients with interstitial deletions involving the long arm of chromosome 12 have led to the proposal of a candidate region for the cardio-facio-cutaneous syndrome (CFCS) at (12)(q21.2q22). We now report a patient with an interstitial deletion, del(12)(q21.1q21.3) that overlaps the proposed critical region. The patient is an 11-year-old female with developmental delay. Her growth was normal but she is microcephalic with low set ears. In common with other patients with deletions in this region, she had fine, sparse head and eyebrow hair and a hyperkeratotic follicular rash, which involved her face and limbs. She does not have the diagnostic features of the CFC syndrome.

Abnormalities, Multiple↗

PubMed1994

Central nervous system abnormalities in chromosome deletion at 11q23.

Two Japanese pediatric patients with terminal deletion of the long arm of chromosome 11 are described. Both had the morphological abnormalities of the 11q deletion syndrome, such as prominent epicanthal folds, broad flat nasal bridge with short, upturned nose, short philtrum with carp-shaped mouth, cardiac anomalies and nonprogressive moderate psychomotor developmental delay. Patient 1 is the first case to be reported with 11q deletion with serial magnetic resonance (MR) examinations of cerebral white matter. The initial MR imaging studies demonstrated multiple areas of T1 and T2 prolongation in the cerebral white matter in both patients at the ages of 2 5/12 and 2 1/12 years, respectively. A second MR imaging, performed 1 year after the first in Patient 1, demonstrated slight improvement of the lesions. Neither patient showed clinical deterioration. These results suggest that the lesions were caused by delayed myelination, rather than by demyelination. It is suggested that an unknown factor which is important for myelination is located on the long arm of chromosome 11: perhaps the neural cell adhesion molecule (NCAM).

Abnormalities, Multiple↗

PubMed2004

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28-month-old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the cortical origin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF.

Chromosomal Proteins, Non-Histone↗

PubMed2002

Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities.

Children with sex chromosome abnormalities (SCA) are known to be at risk for developmental delays. These risks were identified 2 decades ago by seven international research groups who prospectively followed children ascertained after birth. Subsequently, some of these investigators suggested the course of prenatally identified children with SCA may be different from children in earlier studies. The first such evidence was published by Robinson et al. [1992: Am J Med Genet 44:365-368], who compared 20 prenatally diagnosed children to the original postnatally diagnosed cohort. The following report presents an update and expansion of that research and includes 51 children and adolescents prenatally diagnosed with SCA, now 7-18 years of age. Results confirm that this cohort of prenatally diagnosed children has a milder developmental course than children ascertained postnatally. The study provides new information to health professionals counseling families faced with prenatal diagnosis of SCA.

Adolescent↗

PubMed2002

Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism.

Two sibs with an infantile onset of hyperglycemia, recurrent hepatitis, renal insufficiency, developmental delay, and skeletal epiphyseal dysplasia are described. Clinical presentation and radiological features are suggestive of Wolcott-Rallison syndrome, a rare autosomal recessive disease. In both of our cases we found evidence of central hypothyroidism, which appears to be an associated feature of this syndrome. Hypothyroidism should be suspected and screened for in all cases of Wolcott-Rallison syndrome.

Child, Preschool↗

PubMed1999

Respiratory chain complex III [correction of complex] in deficiency with pruritus: a novel vitamin responsive clinical feature.

We report a child with an isolated complex III respiratory chain deficiency and global developmental delay who had severe pruritus with elevated plasma bile acid levels. A liver biopsy showed micronodular cirrhosis, and enzymologic evaluation demonstrated an isolated complex III deficiency in both liver and muscle. His pruritus improved and serum bile acid levels decreased after treatment with menadione and vitamin C.

Anemia, Iron-Deficiency↗

PubMed1984

Outcome of very low birthweight infants who required prolonged hospitalization.

Over a 4 year study period, 294 infants with a birthweight less than or equal to 1500 g survived their initial hospitalization; 103 (35%) were discharged after a gestational age of 40 weeks. The postdischarge infant mortality was significantly higher in those with prolonged initial hospitalization compared with the remaining survivors (6% vs 1%). During the first 2 years, significant infections were found in 66% and rehospitalization in 54% of the children who had prolonged initial hospitalization. At 2 years, 34% were below the 10th centile for weight as were 39% for height; head circumferences were normal. Major disability (27% vs 15%) and developmental delay (13% vs 4%) were significantly more common in survivors with prolonged initial hospitalization compared with the remaining survivors. The study demonstrated the continuing toll of perinatal morbidity among very low birthweight infants who required prolonged hospitalization and emphasized the need for comprehensive medical and social support, not only during their initial hospitalization, but also after discharge.

Australia↗

PubMed1984

Behavior and bladder disturbance of enuretic children: a rational classification of a common disorder.

A group of 126 enuretic children were evaluated as to their psychiatric and neurological states, functional bladder volume and environmental circumstances. Few differences were found when the children were grouped according to presence or absence of social disadvantage, the presence of a family history of enuresis, or the nature of onset of enuresis. No classification differentially predicted response to treatment. However, children with an associated psychiatric disorder had significantly lower bladder volumes and had more developmental delays. It is concluded that the classifications of primary or secondary enuresis, or familial or non-familial, etc., are of little practical value. When psychiatric disorder is found, it is probably related to other constitutional abnormalities. Rather than there being two separate groups of enuretic children with behavior disorder and low functional bladder volume, these two abnormalities are found in conjunction.

Child↗

PubMed1989

Band heterotopias: a newly recognized neuronal migration anomaly.

Five patients with a continuous band of heterotopic neurons between the lateral ventricles and the cerebral cortex are described. All patients presented with intractable seizures and moderate-to-severe developmental delay. The identification of this anomaly is difficult because of its symmetry and the minimal abnormality of the gyral pattern of the cortex. The possible embryogenesis of the anomaly is discussed. The identification of these band heterotopias is important because of the intractable nature of the seizure disorder and the poor prognosis for the patient.

Brain Neoplasms↗

PubMed2003

Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)).

A girl with a de novo interstitial deletion of the short arm of chromosome 1 (46,XX,del (1)(p22p32) is described with moderate developmental delay and minor phenotypic abnormality. These clinical manifestations are compared to previously reported patients with interstitial deletion of chromosome 1, in an attempt to identify a clinical phenotype which seems quite different from the syndrome linked to more terminal deletion of chromosome 1p, and perhaps from more proximal 1p deletion phenotype.

Child, Preschool↗

PubMed1997

Randomized study of the effect of antenatal dexamethasone on growth and development of premature children at the corrected age of 2 years.

The objective of the series was to study the effect of prenatal dexamethasone therapy on the growth and neurological development of preterm children until the age of 2 years. Eighty-two children with a mean gestational age of 30 (24-33) weeks and a mean weight of 1291 (530-2360) g at birth, treated antenatally with either dexamethasone (n = 50) or placebo (n = 32), were examined at the adjusted age of 24 months by a paediatric neurologist, a neuropsychologist and a speech therapist. Neurological development was defined as normal if all scores of neuropaediatric, neuropsychological and verbal tests were within the normal range. Normal neurological development was found in 52% of the dexamethasone-treated and in 34% of the placebo-treated children. The incidence of cerebral palsy was 10% in the dexamethasone group and 22% in the placebo group. Minor developmental delay was found in 42% of dexamethasone-treated and in 53% of placebo-treated children. Our follow-up results indicate that the beneficial effect of prenatal glucocorticoid treatment on cerebral complications (intraventricular haemorrhage or periventricular leucomalacia) demonstrated during the neonatal period may be followed by a lower incidence of cerebral palsy in surviving premature children.

Brain Diseases↗

PubMed1985

Parent Education Project. I: Development and nurturance of children of mentally retarded parents.

The development and home environments of 12, 2-year-old children raised by mentally retarded mothers were assessed using the Bayley Scales of Infant Development and the Caldwell Home Observation for Measurement of the Environment (HOME) Inventory. Results indicated that the children were at-risk for developmental delay, particularly in language. The child's cognitive development was significantly correlated with (a) whether the mother had a previous child removed from the home by child protection authorities and (b) HOME Inventory total scores. Analyses of HOME subscales revealed that mothers who were involved, responsive, and restrictive and punishing had children with higher Bayley Mental Development Index scores.

Adult↗

PubMed2006

Maternal oral intake mouse model for fetal alcohol spectrum disorders: ocular defects as a measure of effect.

BACKGROUND: This work was conducted in an effort to establish an oral intake model system in which the effects of ethanol insult that occur during early stages of embryogenesis can be easily examined and in which agents that may modulate ethanol's teratogenicity can be readily tested in vivo. The model system described utilizes the alcohol deprivation effect to obtain teratogenic levels of maternal ethanol intake on days 7 and 8 of pregnancy in C57Bl/6J mice. Ocular defects including microphthalmia and uveal coloboma, which have previously been shown to result from ethanol administered by gavage or via intraperitoneal injection on these days, served as the developmental end point for this study. The ocular defects are readily identifiable and their degree of severity is expected to correlate with concurrently developing defects of the central nervous system (CNS). METHODS: Female C57Bl/6J mice were maintained on an ethanol-containing (4.8% v/v) liquid diet for 14 days and then mated during a subsequent abstinence period. Mice were then reexposed to ethanol on days 7 and 8 of pregnancy only. Control as well as ethanol-exposed dams were killed on their 14th day of pregnancy. Fetuses were then weighed, measured for crown rump length, photographed, and analyzed for ocular abnormalities. Globe size, palpebral fissure length, and pupil size and shape were noted for both the right and left eyes of all fetuses and informative comparisons were made. RESULTS: This exposure paradigm resulted in peak maternal blood alcohol concentrations that ranged from 170 to 220 mg/dL on gestational day (GD) 8. Compared with the GD 14 fetuses from the normal control group, the pair-fed, acquisition controls, as well as the ethanol-exposed fetuses, were developmentally delayed and had reduced weights. Confirming previous studies, comparison of similarly staged control and treated GD 8 embryos illustrated reductions in the size of the forebrain in the latter. Subsequent ocular malformations were noted in 33% of the right eyes and 25% of the left eyes of the 103 GD 14 ethanol-exposed fetuses examined. This incidence of defects is twice that observed in the control groups. Additionally, it was found that the palpebral fissure length is directly correlated with globe size. CONCLUSIONS: The high incidence of readily identifiable ocular malformations produced by oral ethanol intake in this model and their relevance to human fetal alcohol spectrum disorders (FASD) makes this an excellent system for utilization in experiments involving factors administered to the embryo that might alter ethanol's teratogenic effects. Additionally, the fact that early ethanol insult yields ocular and forebrain abnormalities that are developmentally associated allows efficient specimen selection for subsequent detailed analyses of CNS effects in this in vivo mammalian FASD model.

Abnormalities, Drug-Induced↗

PubMed1998

Substance abuse: infant and childhood outcomes.

Many children are born to women who consume drugs such as alcohol, cocaine, heroin, methadone, marijuana, and/or phencyclidine (PCP) during pregnancy. As a result, some children are growing up with both physical and developmental delays. Children with fetal alcohol syndrome have reported problems with growth, attention deficit disorder, and other medical problems. Impaired cognitive and neurologic functioning through the first 2 years of live has been documented for children exposed to methadone while in utero. Those children exposed to polydrug use including cocaine and marijuana seem to have difficulties with language development and verbal skills. Some of these deficiencies show improvement with early intervention and a nurturing environment, but in many cases the impairment continues throughout childhood. Because experimentation with drugs occurs at an early age, education related to drug prevention should begin early, possibly with school-aged children. Drug prevention education needs to be age and developmentally specific. The use of appropriate drug prevention strategies may help children make good decisions regarding drug use, especially during the teenage years when adolescent pregnancy may occur.

Developmental Disabilities↗

PubMed2002

Aicardi syndrome: spectrum of disease and long-term prognosis in 77 females.

Aicardi syndrome is an X-linked-dominant condition characterized by infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. We reviewed the Aicardi Syndrome Foundation's compilation of family-based, self-reported questionnaires for the year 2000. Information was obtained from 77 females with Aicardi syndrome regarding developmental milestones, seizure frequency, seizure classification, antiepileptic drug use, and medical problems. Patient ages ranged from 1 to 25 years (mean = 7.2 years). All patients were significantly developmentally delayed with milestones ranging from 2 to 36 months. Of the patients, 91% attained milestones no higher than 12 months. Seizures were reported in 92% of patients and occurred daily in 67%. Infantile spasms were the most common seizure type observed in 17%, although a variety of other seizure types were also reported. Multiple antiepileptic drugs were used in these patients with 73% of patients taking two or more antiepileptic drugs. Five patients had a vagal nerve stimulator implanted, and one patient underwent a hemispherectomy. The most common medical problems cited included scoliosis, constipation, gastroesophageal reflux, aspiration pneumonia, and otitis media, but overall health was perceived to be good. Our review demonstrates the spectrum of developmental disabilities, epilepsy severity, and prognosis in a large group of Aicardi patients.

Adolescent↗

PubMed2001

Theory of mind development in deaf children: a nonverbal test of false-belief understanding.

Our aim in this study was to investigate whether previous findings pointing to a delay in deaf children's theory of mind development are replicated when linguistic demands placed on the deaf child are minimized in a nonverbal version of standard false-belief tasks. Twenty-four prelingually deaf, orally trained children born of hearing parents were tested with both a verbal and a nonverbal version of a false-belief task. Neither the younger (range: 4 years 7 months-6 years 5 months) nor the older (range: 6 years 9 months-11 years 11 months) children of the final sample of 21 children performed above chance in the verbal task. The nonverbal task significantly facilitated performance in children of all ages. Despite this facilitation, we observed a developmental delay: only the older group performed significantly above chance in the nonverbal false-belief task, even though the younger children were at the average age when hearing children normally pass standard false-belief tests. We discuss these findings in light of the hypothesis that language development and conversational competence are crucial to the acquisition of a theory of mind.

Journal Article↗

PubMed1986

De novo partial duplication of 17p [dup(17)(p12----p11.2)]: clinical report.

Duplication of band p11.2 and a small proximal portion of band p12 of chromosome 17 was noted in an infant with unusual facial appearance and left calcaneovalgus deformity. Developmental delay was documented over time. Only one other similar case has been found in the literature, but deletion of the same region is known in nine recently described cases [Smith et al, 1986]. This suggests that abnormalities of this small region of 17p are relatively common and only recently detectable with modern high-resolution techniques.

Calcaneus↗