Marilyn J. Bull

Health Supervision for Children With Down Syndrome

These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis. Although a pediatricians initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down syndrome will be referred for review of the condition and the genetic counseling provided. Therefore, this report offers guidance for this situation as well.

Treatment of Smith-Lemli-Opitz syndrome: Results of a multicenter trial

Patients with the RSH or Smith-Lemli-Optiz syndrome (SLOS) have an inborn error of cholesterol biosynthesis which results in a deficiency of cholesterol and an elevation of the cholesterol precursor, 7-dehydrocholesterol. A treatment protocol consisting of administration of cholesterol +/- bile acids was initiated in an attempt to correct the biochemical abnormalities seen. Fourteen patients (8 female, 6 male: ages 2 months to 15 years) have now been treated for 6-15 months. Three patients received cholesterol alone, while 11 patients received cholesterol and one or more bile acids. Biochemical improvement in sterol levels and in the ratio of cholesterol to total sterols was noted in all patients. The most marked improvement was noted in patients presenting with initial cholesterol levels < 40 mg/dl. No toxicity was observed. Clinical improvement in growth and neurodevelopmental status was also observed.

Macrocephaly‐Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities

We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling.

Corticosteroid Treatment of Cutaneous Hemangiomas : How Effective? A Report on 24 Children

Twenty-four children with cutaneous hemangiomas were treated with corticosteroids. The indications for therapy included interference with im portant bodily functions by the hemangioma, thrornbocytogenia related to the hemangioma, or serious cosmetic effects secondary to the hemangioma. Five children had no improvement, twelve had possible improvement, five had probable improvement and two had definite improvement while on cortico steroids. One child had growth retardation as a complication of corticosteroids; this was reversed when the medication was discontinued.

Car safety seats for children: rear facing for best protection

This article has been retracted.

Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature

We present the findings of 13 additional cases of the urorectal septum malformation (URSM) sequence, and review the literature. The URSM sequence consists of ambiguous genitalia concurrent with absence of perineal and anal openings. The sex ratio of the 13 new cases was 7 males to 6 females and from the literature 21 males and 28 females. In addition, 11 of the 13 new cases had anorectal atresia with 5 of the cases also having partial agenesis of the colon. Bilateral renal agenesis was present in 3 of the 13 cases, unilateral renal agenesis occurred in 6, and dysplastic kidneys were found in 10. The URSM sequence is a lethal condition with long-term survival reported in only 3 of a total of 62 literature and new cases. Recurrence of this condition has not been reported.

Safe Transportation of Preterm and Low Birth Weight Infants at Hospital Discharge

Safe transportation of preterm and low birth weight infants requires special considerations. Both physiologic immaturity and low birth weight must be taken into account to properly position such infants. This clinical report provides guidelines for pediatricians and other caregivers who counsel parents of preterm and low birth weight infants about car safety seats.

Children with special health care needs: Patterns of safety restraint use, seating position, and risk of injury in motor vehicle crashes

OBJECTIVES. Special health care needs associated with behavioral conditions may influence a childs safety in motor vehicle crashes. The aim of this study was to describe and compare variation in restraint use, seating position, and injury risk in motor vehicle crashes among children with and without special health care needs likely to affect behavior. PATIENTS AND METHODS. This study uses data collected between December 1, 1998, and November 30, 2002, in a cross-sectional study of children <16 years of age who were involved in crashes of State Farm–insured vehicles in 15 states. Parent reports via a validated telephone survey were used to define precrash special health care needs, restraint status, seating position, and the occurrence of clinically significant injuries by using a previously validated survey instrument. RESULTS. Complete data were collected for 14654 children aged 4 to 15 years, representing 171633 children in crashes. Of these, 152 children were reported to have a special need likely to affect behavior, representing 1883 children. A greater proportion of children with special needs likely to affect behavior were appropriately restrained, particularly among children aged 4 to 8 years. Drivers of children with special needs likely to affect behavior were more often restrained and more often were the child passengers parent. There were no differences in the rates of front-row seating. There was no significant association between the presence of a special need likely to affect behavior and risk of injury, after adjustment for child/driver characteristics and crash severity. CONCLUSIONS. Despite a greater proportion of children with special needs likely to affect behavior using proper vehicle restraint, their injury risk was similar to that of children without these special needs. Primary care pediatricians providing best practices for vehicle safety should consider the unique riding experience and risk of injury among children with special health care needs likely to affect behavior.

Outcome of high-risk neonates with ventriculomegaly

The authors evaluated 89 infants who had had computed tomography of the head and who were followed‐up for a minimum of one year. In a large proportion with moderate ventriculomegaly spontaneous stabilization or regression occurred, with normal developmental outcome in a high percentage of cases. However, there was a statistically significant trend toward lower developmental scores as ventricular size increased. Many infants with ventricular enlargement will not develop progressive hydrocephalus, but their cognitive and psychomotor development may be affected.

Growth outcome and feeding practices of the very low birth weight infant (less than 1500 grams) within the first year of life.

Growth outcome for 1 year of corrected age and feeding practices during that first year of life were described for a large population of very low birth weight (VLBW) infants. Growth patterns of weight, length, and occipitofrontal circumference through 12 months of corrected age, and weight/length ratios at 12 months, were determined for 122 VLBW infants less than or equal to 1500 gm and less than or equal to 35 weeks of gestational age at birth; feeding practices were surveyed within a subpopulation of 89 infants. Differences in growth were apparent when infants were grouped according to sex and appropriateness of intrauterine growth. When the mean values of each group were compared, the female infants of appropriate size for gestational age demonstrated growth at higher percentiles (National Center for Health Statistics term-infant norms) for all three measurements (weight, length, and occipitofrontal circumference). Male infants whose size was appropriate for gestational age, and male and female infants who were small for gestational age, all grew similarly, at lower percentiles for weight and length, when compared with the same norms. Growth in occipitofrontal circumference was closest to term infant norms in all subgroups of infants. The majority of the infants, regardless of subgroup, achieved weights and lengths greater than 5th percentile and proportionate growth with a normal weight/length ratio. At 12 months of corrected age, 30% remained at less than 5th percentile in weight, 21% in length, and 14% in occipitofrontal circumference. Eighteen infants (15%) had a marked discrepancy in weight for length, with a weight/length ratio less than 5th percentile. Three prevalent practices that could result in compromised nutrition were identified: (1) cereals were introduced at an early age, (2) 2% and skim cow milk were fed to approximately 50% of the infants within the first year of life, and (3) whole cow milk was introduced to some VLBW infants at an early age. Caretakers apparently viewed their infants in terms of chronologic age rather than age corrected for prematurity when it came to the initiation of solids and cow milk. Whether increased attention to appropriate feeding practices during the first year of life would result in a more favorable growth outcome for VLBW infants is not known.