Heterogeneity in adducted thumbs sequence.

We report on a boy with adducted thumbs, microcephaly, swallowing difficulties, hypotonia, and severe mental retardation, but without craniostenosis or arthrogryposis. An MRI scan showed myelinization according to age and mild ventricular enlargement. A muscle biopsy documented irregular-shaped and swollen mitochondriae, but results of mitochondrial function tests were normal. The clinical findings were consistent with a developmental defect of the central nervous system. We include a brief review of the 9 reported cases with adducted thumbs sequence.

Six-year follow-up of children with intrauterine growth retardation: long-term, prospective study.

This prospective study was designed to characterize the neurodevelopmental and cognitive difficulties specific to children with intrauterine growth retardation and to detect early clinical predictors of these difficulties. Eighty-one children with intrauterine growth retardation were monitored up to 6 to 7 years of age using biometric parameters, perinatal risk questionnaires, and detailed neurodevelopmental and cognitive assessments. Forty-one children served as age-matched, appropriate for gestational age controls. A significant difference in growth parameters (P < .001), neurodevelopmental score (P < .05), and IQ (P < .05) was found between the children with intrauterine growth retardation and controls. A specific profile of difficulties in coordination, lateralization, spatial and graphomotor skills, and abundance of associated movements is typical of the children with intrauterine growth retardation and hints at possible later learning disabilities. The clinical parameters best predicting neurodevelopmental outcome were the neonatal risk score (P < .05) and the weight and height at 6 years of age (P < .05). The children with intrauterine growth retardation with neonatal complications had lower neurodevelopmental scores than the controls but no difference in IQ. Intrauterine growth retardation children diagnosed prenatally had the same neurodevelopmental and IQ scores as those diagnosed at birth, probably due to the careful perinatal and obstetric care provided. Children with intrauterine growth retardation demonstrate a specific profile of neurodevelopmental disabilities at preschool age. Early diagnosis and intervention could probably reduce these difficulties to a minimum.

Neurodevelopmental outcome in children with intrauterine growth retardation: a 3-year follow-up.

The study was designed to detect early clinical predictors of developmental outcome in children with intrauterine growth retardation. Eighty-five children with intrauterine growth retardation were followed up prospectively to 3 years of age, using biometric parameters, perinatal risk questionnaires, and neurodevelopmental evaluations. Forty-two children served as controls. A significant difference in neurodevelopmental score at 3 years of age was noted between the intrauterine growth retardation and control groups (P < .001). In the intrauterine growth retardation group, the clinical parameters that most significantly correlated with outcome were cephalization index (head circumference:birthweight ratio), neonatal risk score, and birthweight. The best predictor of 3-year outcome was the cephalization index (P < .01). The children with intrauterine growth retardation with neonatal complications had significantly lower IQ scores (P < .05) and a poorer neurodevelopmental outcome (P < .01) than those without complications. Children with intrauterine growth retardation are at higher risk for developmental disabilities than are controls, especially in the presence of neonatal complications and a high cephalization index.

Unprovoked seizures and developmental disabilities: clinical characteristics of children referred to a child development center.

Few data are available on the risk of seizures in young children with developmental problems. A retrospective evaluation of 1,946 children 0-5 years of age referred to the Tel Aviv Child Development Center (CDC) between 1981 and 1990 was performed. The study was undertaken to determine the cumulative risk of unprovoked seizures in children referred to a CDC and to assess the risk factors associated with seizures in these children. The center serves the Tel Aviv area for a variety of developmental disabilities. Cumulative risk of seizures and risk factors were assessed using Kaplan-Meier methodology. Unprovoked seizures occurred in 58 patients (3%), including 10 with a single seizure and 48 with two or more seizures. Risk factors for seizures included cerebral palsy (CP) (relative risk [RR] = 28.7), neonatal seizures (RR = 15.2), mental retardation (MR) (RR = 7.8), febrile seizures (RR = 7.7), autism (RR = 3.2), and prematurity (RR = 2.7). The cumulative risk of seizures by age 5 years in children with MR, CP, and MR plus CP was 8%, 47%, and 68%, respectively, compared with 1% in those without MR or CP. On multivariate analysis, CP, MR, prior febrile seizures, and prematurity were associated with an increased risk of seizures. The risk of experiencing unprovoked seizures by age 5 in children with developmental disabilities is 3%, which is fourfold greater than that of the general population. Much of this increased risk is limited to selected subgroups with major disabilities. However, if neither MR nor CP is present, the 1% risk of developing unprovoked seizures by age 5 in children with other developmental problems is not substantially different from that expected in the general population.

Clinical characteristics of children referred to a child development center for evaluation of speech, language, and communication disorders.

Speech, language, and communication disorders are prominent reasons for referrals to a child development center. From 1984 to 1988, 1,090 preschool children were referred to our child development center, which serves the Tel Aviv metropolitan area. Of all referrals, 432 (41%) were primarily due to speech, language, and communication problems. After exclusion of those with IQ < 50 and those with non-language-related disabilities, 323 children remained. The children were classified into different subtypes of developmental language disorders and autistic spectrum disorders. The main developmental language disorder subtypes were combined expressive-receptive (49%) and expressive (44%). Central processing deficits were less common, occurring in 20 (7%) of the children. Parents of children with developmental language disorders had educational levels similar to those of parents of children referred to the child development center for other causes. However, parents of children with infantile autism had higher educational levels than parents of children with developmental language disorder or parents of children referred for other causes (P < .001). Our results reflect the distribution of language and related problems in an unselected population of preschool children referred to a child development center.

Paroxysmal kinesigenic choreoathetosis.

A healthy intelligent 13.5-year-old boy is reported who presented with paroxysmal kinesigenic choreoathetosis. He had had unilateral tonic spasms for 2 months. In a stressful situation, especially after a period of immobility, a sudden voluntary movement provoked a dystonic-choreoathetoic posturing of the left arm and leg. Attacks were brought on, for instance, by standing up quickly from a sitting position. They lasted only 5-10 s, without loss of consciousness and occurred up to ten times daily. Between the attacks there were no abnormalities. Family history was non-contributory. Neurological examination and laboratory findings, including repeated EEGs, were all negative. The child responded very well to phenytoin treatment and has now been completely free of dystonic attacks for a period of 9 months. The importance of early recognition of this syndrome and the differential diagnosis with reflex epilepsy and other forms of dystonic choreoathetosis is discussed.