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To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future. The second review in this series discusses fetal alcohol syndrome and fetal alcohol spectrum disorders.

A sample of 12 children (seven males, five females; mean age 6 years 7 months, SD 2 years 6 months, range 2 years 4 months to 12 years 1 month) with moderate-to-severe foetal alcohol syndrome (FAS) and another sample of 26 children (12 males, 14 females; mean age of 6 years 2 months SD 2 years 10 months, range 2 years 6 months to 12 years 8 months) with mild FAS or foetal alcohol effects (FAE) as well as a sample of 15 age- and sex-matched control children with unspecific intellectual disability were compared using the Developmental Behaviour Checklist (DBC). There were significant differences (p=0.01) between the groups on five of six subscales of the DBC with controls scoring lower on the disruptive, self-absorbed, anxiety, antisocial behaviour, and communication disturbance scales. The DBC profiles of the two foetal alcohol exposed groups did not differ from each other. It is concluded that quantitative behaviour measurement provides insights into specific behavioural phenotypes of FAS/FAE.

The fetal alcohol syndrome (FAS) is caused by maternal alcohol misuse during pregnancy and is characterized by pre- and postnatal growth retardation, central nervous system anomalies and a wide spectrum of malformations, the most typical being the craniofacial features. The eye is a sensitive indicator of the adverse effects of environmental agents, and the ocular abnormalities observed in children with FAS indicate that the developing eye is particularly affected by alcohol. The external signs include short palpebral fissures, telecanthus, epicanthus, blepharoptosis, microphthalmos and strabismus. Within the eyes, the signs and symptoms most commonly detected are optic nerve hypoplasia, increased tortuosity of the retinal vessels and impaired vision. Experimental models of FAS, closely reproducing characteristics of human FAS, have contributed to our understanding of the cellular and molecular basis of the action of alcohol in the developing visual system. As there is such a high frequency of eye signs and symptoms in FAS, an ophthalmological examination is important when making the diagnosis, as well as in the management of the disorder. Current knowledge of ophthalmological involvement in FAS in humans is presented, as well as a review of findings using animal models specially designed for studying ocular developmental changes induced by alcohol.

Fetal alcohol syndrome, FAS, is characterized by pre- and/or postnatal growth deficiency, CNS dysfunction, typical facial features and evidence of prenatal alcohol exposure. FAS is often an unrecognized diagnosis and is based on clinical symptoms alone. The cognitive and behavioral disturbances have a great influence on the children's ability to learn and on their adult life. FAS is to a great extent found in areas with less than satisfactory socio-economic conditions. Since ophthalmologic involvement is frequent, an eye examination may be helpful in making a diagnosis. Prevention is essential since the brain damage prevails, despite comprehensive medical and social supportive efforts being made during childhood and in education.

Fetal alcohol syndrome, FAS, is characterized by pre- and/or postnatal growth deficiency, CNS dysfunction, typical facial features and evidence of prenatal alcohol exposure. FAS is often an unrecognized diagnosis and is based on clinical symptoms alone. The cognitive and behavoral disturbances have a great influence on the children's ability to learn and on their adult life. FAS is to a great extent found in areas with less than satisfactory socio-economic conditions. Since ophthalmologic involvement is frequent, an eye examination may be helpful in making a diagnosis. Prevention is essential since the brain damage prevails, despite comprehensive medical and social supportive efforts being made during childhood and in education.

Mental retardation in young children is often missed by clinicians. The condition is present in 2 to 3 percent of the population, either as an isolated finding or as part of a syndrome or broader disorder. Causes of mental retardation are numerous and include genetic and environmental factors. In at least 30 to 50 percent of cases, physicians are unable to determine etiology despite thorough evaluation. Diagnosis is highly dependent on a comprehensive personal and family medical history, a complete physical examination and a careful developmental assessment of the child. These will guide appropriate evaluations and referrals to provide genetic counseling, resources for the family and early intervention programs for the child. The family physician is encouraged to continue regular follow-up visits with the child to facilitate a smooth transition to adolescence and young adulthood.

Purpose: This study set out to collect reference data for normal ocular growth and to study the teratological effects of alcohol on eye development., Methods: Eye size was studied in 92 healthy Swedish children (age 1 month to 16 years) as reference and in 13 children (age 1.4 months to 17 years) with fetal alcohol syndrome (FAS) using ultrasonographic axial length measurements. Another three children with FAS were evaluated by clinical examination only., Results: The control group demonstrated a marked increase in total axial length during the first 2 years of life. Girls with FAS had a shorter total axial length (p = 0.045) than their controls. Both boys and girls with FAS demonstrated a relatively smaller vitreous body than the controls, p = 0.015 and 0.068, respectively. Three children with FAS had severe structural anomalies., Conclusion: The observations support previous studies indicating that alcohol has an adverse effect on growth and configuration of the eye.

The purpose of this review is to familiarize physical therapists with the diagnostic, clinical, and behavioral characteristics associated with fetal alcohol syndrome (FAS) and other alcohol-related birth defects. Through review of FAS research studies of both humans and animals, the prevalence, pharmacokinetics, and clinical features of this syndrome are described. Deficits in the areas of cognitive, behavioral, and motor development are also described. Particular attention is given to neuromotor differences and orthopedic abnormalities associated with FAS that may require consultation or intervention from physical therapists.

The purpose of this article is to present a series of case reports of infants and young children who were exposed to alcohol prenatally. The five infants and two 5-year-old twins in this series all presented facial features characteristic of prenatal alcohol exposure, and all had medical histories of maternal alcohol abuse. The neuromotor and cognitive development of these seven children is described by presenting results of standardized tests administered longitudinally. In addition, clinical observations of growth, behavior, feeding, and musculoskeletal development are provided. Following a discussion of these assessment results, implications for physical therapy intervention and the need for clinical research are provided. Because children with fetal alcohol syndrome or alcohol-related birth defects present a spectrum of developmental differences that often include areas of concern to physical therapists, we need to increase our involvement in the assessment and treatment of these children as well as in research efforts to examine the efficacy of these interventions.

The light- and electron-microscopic changes in a biopsy of the liver obtained at age 17 mo from a child with fetal alcohol syndrome were studied. At the time of biopsy, hepatomegaly and raised serum transaminases were present as well as neurologic and growth defects and the typical facial anomalies seen in this syndrome. Light microscopy of the liver biopsy specimen revealed parenchymal fat with portal and perisinusoidal fibrosis. Ultrastructurally, perisinusoidal spaces contained deposits of intermediate-size and large collagen fibers, myofibroblasts and occasional Ito cells, and subendothelial basement membrane-like material. These changes resemble those seen in adult human and baboon alcoholic liver disease and suggest that hepatic fibrosis in fetal alcohol syndrome has a similar pathogenesis.

An unusual case of the fetal alcohol syndrome with hydrocephalus caused by a Dandy-Walker cyst is reported. It is postulated that aberrant neuroglial tissue due to prenatal maternal alcohol ingestion may have caused the Dandy-Walker deformity.

Forty children with the fetal alcohol syndrome were identified in the west of Scotland. All were growth retarded and had abnormal facial features, and all those who were tested were found to have neurological or developmental abnormalities. Two children died of associated physical defects. Most of the mothers were socially deprived, and all had drunk heavily while pregnant. Three women had subsequently died. These findings provide clear evidence that in the west of Scotland maternal alcohol abuse during pregnancy is a significant cause of morbidity and mortality in children.

The authors were invited by the band council to carry out a study to determine the prevalence of alcohol embryopathy among children in a native Indian community in British Columbia. The mothers of the 123 children aged 18 years or less who lived in the community were interviewed. In addition, educational screening was carried out for children in grades 1 through 12, and 116 of the children underwent medical examination. A diagnosis of fetal alcohol syndrome or fetal alcohol effects (FAS/FAE) was made in 22 children aged 3 to 18 years. Each of these children was matched for age and sex with an unaffected child in the same community, and both groups underwent psychoeducational testing. The children with FAS/FAE showed a generalized depressed level of functioning compared with the unaffected children. The finding that two thirds of the children with FAS/FAE were mentally retarded points to a major health and education problem.

In a review of 13 documented cases of fetal alcohol syndrome (FAS), an increased incidence of life-threatening bacterial infections as well as a propensity to minor infections was observed. Five of 13 patients had had at least one episode of pneumonia, two had meningitis, and one had sepsis. A comprehensive immunologic evaluation of FAS was completed, and results were compared to an age-matched control group of children with intrauterine growth retardation without FAS. Children with FAS were shown to have decreased E rosette-forming lymphocytes (35 +/- 5% versus 55 +/- 5% or 1328 +/- 274 versus 2333 +/- 112 per mm3), low EAC rosette-forming lymphocytes (15 +/- 2% versus 18 +/- 1% or 524 +/- 109 versus 740 +/- 75 per mm3), and diminished mitogen-induced stimulation responses to mitogens: 31616 +/- 5337 versus 58076 +/- 4455 cpm for phytohemagglutinin, 17582 +/- 5436 versus 35018 +/- 5346 for pokeweed mitogen, and 32460 +/- 7044 versus 54996 +/- 5531 for concanavalin A, P less than 0.05. Nine patients had dysgammaglobulinemia, FAS subjects also had a marked eosinophilia (624 +/- 154 versus 72 +/- 27 mm3). Other parameters of immune function including absolute lymphocyte and neutrophil counts, total hemolytic complement, delayed cutaneous hypersensitivity, and nitroblue tetrazolium dye reduction assays, were not different from control children. Impairment of immunity may explain an increased susceptibility to infection in FAS.