Thiamine deficiency in infancy: long-term follow-up.

Background: In 2003, several hundred Israeli infants risked thiamine deficiency after being fed a soy-based formula deficient in thiamine. Approximately 20 patients were seriously affected, and three of them died. We report the clinical presentation of acute encephalopathy in 11 children and the long-term sequelae of eight children who initially survived.

Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder.

DNA mutational events are increasingly being identified in autism spectrum disorder (ASD), but the potential additional role of dysregulation of the epigenome in the pathogenesis of the condition remains unclear. The epigenome is of interest as a possible mediator of environmental effects during development, encoding a cellular memory reflected by altered function of progeny cells. Advanced maternal age (AMA) is associated with an increased risk of having a child with ASD for reasons that are not understood.

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

Postnatal microcephaly is defined as normal head circumference at birth, which progressively declines to more than 2 standard deviations below the average for the patient's age and sex. We describe four patients from three consanguineous families of Arab Bedouin origin who presented with autosomal recessive inheritance of progressive microcephaly, spasticity, thin corpus callosum, pyramidal signs, and intellectual disability. Homozygosity mapping (Human Mapping NspI 250K arrays, Affymetrix, Santa Clara, CA) placed the disease locus at 8q23.

Prevalence of epilepsy and attention-deficit hyperactivity (ADHD) disorder: a population-based study.

Epilepsy and attention-deficit hyperactivity disorder (ADHD) were reported to co-occur at rates higher than expected for coincidental findings. This study investigated the prevalence of both disorders in community-based primary care practice. The central database of the second-largest health maintenance organization in Israel was searched for all children aged 6 to 13 years (n = 284 419; 51.

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

We describe a consanguineous Israeli Arab kindred with five males in two interrelated families with intellectual disabilities, alacrima, achalasia, and mild autonomic dysfunction. Adrenal function is normal. Their phenotype is similar to the phenotype observed in autosomal recessive Triple A syndrome except for the presence of mental retardation in all affected individuals.

Alcohol consumption during pregnancy among women in Israel.

Background: Fetal alcohol spectrum disorder (FASD) is a range of disabilities caused by gestational exposure of the fetus to alcohol. Alcohol consumption in Israel has increased dramatically in the last decades. Our previous study revealed limited knowledge among Israeli medical professionals of the risks and potential long-term effects of FASD.

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?

Clubfoot is a common birth deformity, and agenesis of the corpus callosum is one of the most prevalent brain malformations. We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly.

Fetal alcohol spectrum disorder in Israel.

Background: Fetal alcohol spectrum disorder is a range of disabilities caused by gestational exposure to alcohol. FASD is the leading cause of preventable mental retardation and developmental disability in the United States, with an incidence of 1-10 per 1000 live births. FASD in Israel has yet to be examined systematically.

Time trends in reported autistic spectrum disorders in Israel, 1972-2004.

Background: Studies from many countries have reported an increasing prevalence of autistic spectrum disorder in childhood. No comprehensive epidemiological studies of ASD have been performed in Israel.

Objectives: To describe time trends in the reported number of patients with ASD in Israel and to characterize the demographic features of the reported patients.

Post-adoption depression among adoptive mothers.

Objective: To evaluate the rate of depressive symptomatology and possible underlying factors in adoptive mothers during the transition to motherhood.

Design: Cohort survey.

Setting: General Community.

The effect of calcium intake and physical activity on bone quantitative ultrasound measurements in children: a pilot study.

Environmental factors, such as nutritional status, physical activity, and drug therapy, can affect bone mineralization. Our objective was to evaluate the relationship between nutritional status, physical activity, and bone mineralization as assessed by multisite quantitative ultrasound technology in children. The study group comprised 67 children, aged 6-17 years (mean, 9.

Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS.

The 22q11.2 deletion syndrome (22q11.2DS) is the most common hemizygous deletion syndrome in humans.

Benign hereditary chorea: clinical, neuroimaging, and genetic findings.

Benign hereditary chorea is an autosomal dominant disease with an early onset of symptoms. In some families, symptoms tend to decrease in adulthood, suggesting that the disorder results from a developmental disturbance in the brain. Individuals with benign hereditary chorea, a nonprogressive disease, have normal or slightly below normal intelligence.

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome.

We report on a family in whom the combination of mental retardation (MR), anterior maxillary protrusion, and strabismus segregates. The healthy, consanguineous parents (first cousins) of Israeli-Arab descent had 11 children, 7 of whom (5 girls) were affected. They all had severe MR.

Pediatricians' satisfaction with their abilities to care for children with developmental, behavioral and psychosocial problems.

Background: Developmental and behavioral pediatrics has emerged as an area of special interest and new responsibility for pediatricians. The aim of this study was to evaluate the impact of training, experience, and other factors on pediatricians' satisfaction with their abilities to care for children with developmental, behavioral and psychosocial problems.

Methods: A questionnaire was sent to 211 pediatricians working in primary care clinics in the community in Israel.

Trauma-induced dystonia and camptocormia in a child.

A 14-year-old male sustained neck trauma during a fight at school. Torticollis developed immediately afterwards, followed by axial dystonia and camptocormia. Thorough evaluation for etiology or background disease, including psychiatric examination, was negative except for the recent trauma.

Motor and non-motor sequence learning in children and adolescents with cerebellar damage.

Cerebellar involvement in motor and non-motor sequence learning was examined with serial reaction time tasks (SRT). Our sample consisted of 8 children and adolescents who had undergone surgical removal of a benign posterior fossa tumor (PFT) during childhood. None of them had undergone chemotherapy or cranial radiation therapy (CRT).

Familial cognitive impairment with ataxia with oculomotor apraxia.

Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral neuropathy. The mean age at onset is approximately 4.7 years, with oculomotor apraxia appearing a few years later.

Task switching after cerebellar damage.

The authors of this study investigated task switching following cerebellar damage. The study group consisted of 7 children and adolescents (M age=13.8 years) who underwent surgical removal of a benign posterior fossa tumor.

Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome.

The study of neurogenetic microdeletion syndromes provides an insight into the developmental psychopathology of psychiatric disorders. The aim of the study was to evaluate the prevalence of psychiatric disorders, especially obsessive-compulsive disorder (OCD), in patients with velocardiofacial syndrome (VCFS), a 22q11 microdeletion syndrome. Forty-three subjects with VCFS of mean age 18.

Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study.

Background: Velocardiofacial syndrome (VCFS) is a common microdeletion syndrome associated with psychiatric morbidity and developmental disabilities. Although attention-deficit/hyperactivity disorder (ADHD) is the most common psychiatric problem associated with VCFS, there are no reports on methylphenidate treatment in this patient population. Indeed, clinicians have commonly avoided the use of methylphenidate in children with VCFS because of concerns about ineffectiveness or psychotic exacerbation.

Pre-placement screening in international adoption.

Background: The number of child adoptions from abroad is increasing, but the adverse living conditions of these children prior to the adoption raise questions on their medical and neurodevelopmental status, particularly since there are no guidelines for pre- or post-adoption medical evaluation.

Objectives: To describe the condition of a cohort of young children who were candidates for adoption in East European orphanages and foster homes, and to determine those attributes associated with a family's decision to adopt or refuse a particular child.

Methods: Eighty-two young children, median age 11 months, were evaluated by Israeli pediatricians in Eastern Europe between 3 weeks and 6 months prior to their adoption.

[Growth and development aspects of international adoption].

With the increase in the number of children being adopted by Israeli families from abroad, the medical system has to face heretofore unfamiliar medical and developmental challenges. Many of the biological mothers of these children were substance abusers and suffered from a variety of illnesses and nutritional deficiencies during their pregnancy. Their infants and young children were placed in orphanages at a very young age.

Isolated orofacial dyskinesia: a methylphenidate-induced movement disorder.

We report a case of orofacial dyskinesia in a 6-year-old female with attention-deficit-hyperactivity disorder who received a low dose of methylphenidate. The orofacial dyskinesia appeared immediately and subsided rapidly on the same day in an "on-off" fashion and on 3 separate days when methylphenidate was taken. To our knowledge this particular side effect has not been described previously and might represent an unusual type of brain response or sensitivity.

[Parenthood--medical aspects of international adoption].

The unavailability of significant numbers of native-born children for adoption by local families has led to an upsurge in international adoptions throughout the Western world, including Israel. The sudden appearance here of large numbers of babies and young children from countries with a variety of indigenous infectious diseases has focused concern on the issue. It has also induced the Ministry of Health to issue guidelines to protect the well-being of the public at large, as well as to aid adoptive families in maintaining their own, as well as their newly adopted children's health.