A. Rottoli

4p(-) syndrome: a chromosomal disorder associated with a particular EEG pattern.

Summary: We report an electroclinical and cytogeneticstudy of 4 patients with Wolf‐Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high‐voltage wave with a superimposed spike becoming unusual spike‐wave complexes, often elicited byeye closure; bursts of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12–pl3 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12–p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.

Docosahexaenoic acid supplementation and time at achievement of gross motor milestones in healthy infants: a randomized, prospective, double-blind, placebo-controlled trial

BACKGROUND Docosahexaenoic acid (DHA) intake throughout the first year of life is associated with neurodevelopmental and neuropsychological benefits. Few studies have evaluated the role of DHA intakes on age at achievement of gross motor milestones. OBJECTIVE The objective was to assess the effects of DHA supplementation throughout the first year of life on the achievement of four gross motor milestones in healthy infants. DESIGN In this multicenter prospective, randomized, double-blind, placebo-controlled trial, 1160 healthy neonates were assigned to receive supplementation with either 20 mg liquid DHA (n = 580) or placebo (n = 580) orally once daily throughout the first year of life. The primary endpoint was the time at achievement of 4 gross motor milestones (sitting without support, hands-and-knees crawling, standing alone, and walking alone). All analyses were performed on an intention-to-treat basis. RESULTS The time to achievement of sitting without support was shorter (P < 0.001) in infants who received DHA [median: 26 wk; interquartile range (IQR): 24-29 wk] than in those who received placebo (27 wk; 26-31 wk). No significant difference between infants who received DHA or placebo was found for hands-and-knees crawling [39 wk (34-44 wk) compared with 40 wk (35-44 wk), respectively], standing alone [49 wk (43-55 wk) compared with 49 wk (44-57 wk), respectively], and walking alone [55 wk (50-60 wk) compared with 56 wk (52-61 wk), respectively]. CONCLUSIONS Despite the 1-wk advance in sitting without support associated with DHA supplementation, no demonstrable persistent effects of DHA supplementation on later motor development milestones were found. Thus, the long-term clinical significance of the 1-wk change in sitting without support, if any, remains unknown. This trial is registered at (clinicaltrials.gov) as NCT00610922.

Fatty acid metabolism in phenylketonuria.

Children treated for phenylketonuria (PKU) have a low intake of whole animal foods. Consequently, the dietary intake of long-chain polyunsaturated fatty acids (PUFA) is just a few milligrams per day, mostly represented by arachidonic acid (AA). In a consecutive series of studies, we assessed in treated PKU children their long-chain PUFA status, the AA-related eicosanoid synthesis and the effects of specific PUFA supplementations. We found that the good compliance with the dietary regimen negatively influences the long-chain PUFA status and serum eicosanoid release from platelets. Supplementation with either marine or blackcurrant oils modifies the long-chain PUFA status of PKU children without approaching the fatty acid pattern of a healthy control population. Good-compliant PKU patients have diet-related, low levels of circulating long-chain PUFA, whose clinical and functional consequences deserve further investigation. The effects of dietary supplementations with long-chain PUFA of both the n-6 and n-3 series should be carefully evaluated.

Dairy Products and Adolescent Nutrition

Adolescence is an intense anabolic period. The requirement for all nutrients is increased, but particularly that for dietary calcium. A balanced intake of the macronutrients (protein, fats and carbohydrates) is recommended to prevent the chronic degenerative disorders of adulthood. The temporal pattern of the calorie intake also deserves attention since it may affect homeostatic regulation. Adolescents often show disorders of dietary behaviour predisposing them to both obesity and anorexia. Dietary intervention in this age-group should promote the regular consumption of breakfast, a balanced intake of animal and vegetable foods and an increased calcium supply to maximize bone density. Dairy products and vegetables (mainly enriched cereals) constitute the basis of a good diet for adolescents, to supply their needs for growth and for subsequent good health.

Plasma chromium and manganese levels in treated PKU patients

Plasma chromium (Cr) and manganese (Mn) levels were measured in 16 phenylketonuric (PKU) children, 1-13 years old. All these children had been on a phenylalanine (Phe) restricted diet for at least 12 months. The diet was based on a Phe-free protein substitute and various amounts of low Phe products. No clinical signs of Cr or Mn deficiency were evident in any of the patients. The control population included 16 healthy subjects of comparable age on a normal diet. In all children, blood was drawn after a 12 h fast. The determinations were performed using atomic absorption spectrophotometry with electrothermal atomization (Davidson and Secrest, 1972; Halls and Fell, 1981). The difference between means was tested for significance by the unpaired Students r test. PKU patients had a mean plasma Cr concentration of 2.20ngmL -1 with a standard deviation (SD) of 1.36 compared with 2.79ngmL -~ (SD+0.90) for the controls. Plasma Mn values were 2.91 ngmL -1 (SD+1.42) in the PKU patients and 3.13 ngmL -1 (SD_+1.89) in the controls. These differences were not significant. Even if we consider only the PKU patients under strict metabolic control (5 subjects with mean plasma Phe values during the previous year of ~<8 mg dL -1) no significant differences can be seen. Utilizing tables of composition of foodstuffs, we calculated the approximate daily Cr and Mn intake of our patients. Cr intake, variable in relation to age at between 0.05 and 0.1 mgd -I, is within the limits of the recommended dietary allowances (RDA: 0.02--0.2 mg d-1) (Committee on Dietary Allowances, 1980) for the various ages. In contrast, Mn daily intake, variable with age between 0.66 and 1.5 mg d -1, is always lower, for every age group, than recommended (RDA: 1-5mgd -1) (Committee on Dietary Allowances, 1980). The difference is greatest in the oldest children. The most likely explanation for this finding is the high bioavailability of the Mn contained in vegetables and fruits, two very important components of a low Phe diet.

Magnesium-deficient rickets in a phenylketonuric patient on dietary treatment

Absolute or relative vitamin D deficiency is the most frequent cause of rickets in children. Many reviews have shown that rickets may appear in association with environmental conditions, wrong dietary habits, gastrointestinal diseases and drug administration. Magnesium deficiency is also an uncommon cause of rickets. We report the case of a phenylketonuric (PKU) child with vitamin D-resistant rickets and magnesium deficiency.

Fatty acid status in treated galactosaemia

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