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Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed developmental milestones, and a distant female relative with similar abnormalities. The syndrome is thought to be previously undescribed, though it has resemblances to Marinesco-Sjögren and Marfan's syndromes.
OBJECTIVE: To investigate the prevalence of positive screening test for developmental delays in a cohort of children born in Pelotas, Brazil in 1993, and their risk factors. METHODOLOGY: A sample of 20% (1,363 children) of a cohort of children born in Pelotas, Brazil, was studied at 12 months of age regarding their development. The Denver II Test was used. The children who failed in two or more items of the test were suspected of having development delay. A set of independent variables was chosen taking into account the hierarchical relations between risk factors according to the conceptual framework (socioeconomic, reproductive and environmental, birth conditions, childreńs care, nutrition and morbidity). Analyses were performed using Mantel-Haenszel X2 and multivariate technique through conditional logistic regression, to control for possible confounding. RESULTS: At 12 months of age, 34% (463) of the total of 1,363 children failed in the screening test. After adjusting for possible confounding variables, failure was associated with family lower income children (OR= 1.5), very low birth weight (OR= 4.0), gestational age less than 37 weeks (OR= 1.6), more than three siblings (OR= 1.9), and duration of breastfeeding less than three months (OR=1.6), or no breastfeeding (OR= 1.9). Children who presented weight/age at six months of age less or equal to -2 z score of the reference population presented a risk 10 times greater of having failure in the Denver II Test. CONCLUSIONS: This study reinforces the multiple etiology of development delays and the concept of cumulative risk effect. In this population those who are economically disadvantaged accumulate risk factors (social, economic and environmental) that may render to deficits in their development.
We report two siblings with bowed tibia, hypoplastic thumbs, multiple fractures, a distinctive facial phenotype and developmental delay. These children share some features with other cases reported in the literature but we consider that they represent a new syndrome.
A case of lead poisoning from an Indian herbal vitamin is presented. The patient who was developmentally delayed was given an herbal vitamin from India to strengthen his brain. The tablet contained large amounts of lead and mercury, leading to significant lead burden. Vulnerability of families and lack of awareness of health care professionals of dangers of unknown herbal supplementation are discussed.
A one-year-boy presented with constipation, fever, failure to thrive and developmental delay from the neonatal period. Investigations revealed persistent hypernatremia and deranged renal functions. Diagnostic work-up was suggestive of nephrogenic diabetes insipidus (NDI). Computerized tomography of head revealed calcification in the frontal, thalamic and basal ganglia region. The rare association of NDI and intracranial calcification is discussed.
The authors describe a 6-year-old girl with developmental delay, psychomotor regression, seizures, mental retardation, and autistic features associated with low CSF levels of 5-methyltetrahydrofolate, the biologically active form of folates in CSF and blood. Folate and B12 levels were normal in peripheral tissues, suggesting cerebral folate deficiency. Treatment with folinic acid corrected CSF abnormalities and improved motor skills.
In this study, we evaluated the incidence of hyperlexia in a clinically referred sample of 80 children with developmental delays. Based on hypotheses previously formulated in the literature, the study investigated the frequency of hyperlexia among boys and girls, the incidence of hyperlexia in children with Pervasive Developmental Disorders (PDD)-spectrum compared with non-PDD diagnoses, the range of IQ and of various cognitive skills in children with and without hyperlexia, and the developmental outcomes of children with and without hyperlexia. The results revealed no significant differences in the frequency of hyperlexia in girls compared with boys. However, the frequency of hyperlexia was significantly elevated among children with PDD compared with children with non-PDD diagnoses. The range of IQ and other cognitive skills and the developmental outcomes of children with hyperlexia were comparable to those of children without hyperlexia.
An 18 month old girl with dysmorphic features, severe developmental delay, multiple strawberry naevi, and capillary naevi is described. No previous report of a similar association of features has been identified.
We report a child from a highly inbred Omani family with hypoparathyroidism, growth failure, developmental delay and a distinctive facial appearance. Thirty cases with this syndrome have been previously reported; 22 came from the Arab Gulf Countries and eight were Arabs living in Israel. These cases are reviewed.
To address the unusual peer-related social competence difficulties characteristic of young children with mild developmental delays, we conducted a randomized clinical trial to evaluate the effectiveness of a comprehensive, developmentally oriented, highly individualized intervention extending over a 2-year period. Outcome measures emphasized generalization of peer interactions in unfamiliar playgroups. Results revealed modest effects of the intervention, with children who had lower cognitive levels benefiting most. Intervention effects were best conceptualized as preventative, minimizing the negative features and atypical patterns of children's social play with peers. Our discussion of future work was focused on alternative implementation models to enhance intervention intensity, inclusion of specific subgroups of children, and direct measurement of children engaging in social tasks.
A survey conducted on a quota sample of 42 developmentally delayed children included assessment of maternal nutrition knowledge and attitudes. A 24-hour recall was combined with a two-day food record for calculation of dietary iron intakes of the children. Serum ferritin levels were used to assess subjects' iron stores. Maternal education was positively correlated with maternal nutrition knowledge, attitude toward meal planning, and stricter attitudes toward feeding children. Maternal nutrition knowledge and strictness attitudes significantly correlated with dietary iron intake. Relative feeding skills and age correlated with serum ferritin levels.
The goal of this study was to examine the usefulness of neurometabolic testing in patients with unexplained developmental delay. We included 118 patients from ages 3 months to 13 years. The evaluation was conducted according to a protocol that called for stepwise investigations with the intention to minimize unnecessary tests. Clinical and neuroradiologic abnormalities were used as guidelines for the type and extent of the neurometabolic work-up. Based on our results, a diagnosis for a neurometabolic disorder was established in 16 patients (13.6%). Findings regarding abnormal metabolites (amino acids, ammonia, lactate, pyruvate, urine organic acids) did not lead to a diagnosis but to further investigations. Abnormalities in lysosomal enzymes, very-long-chain fatty acids, and urine mucopolysaccharides were definitive in establishing a diagnosis. In conclusion, in children with slowly progressing development with no apparent cause, there is a need for guidelines regarding the type of patients who need to be tested and the kind and extent of neurometabolic diagnostic work-up.
PROBLEM: Little is known about the effects of parental beliefs on children with disorders such as pervasive developmental delay (PDD). METHODS: A six-question, semistructured, videotaped interview was used to gather preliminary descriptive data from 44 caregivers regarding beliefs about their PDD children (ages 3-15 years). Children and caregivers were selected by purposive sampling from a preadmission waiting list for a child psychiatric inpatient unit. FINDINGS: While responses varied, most caregivers shared concerns about delayed child development, appropriateness of school placement, and future planning. In addition, some indicated they possess inaccurate beliefs regarding the intention of child behavior as well as the PDD diagnosis. All indicated a need for direction in how to effectively help the children. CONCLUSIONS: Parental responses to the interview questions support the author's clinical observations regarding the need for nurse-conducted parent training programs. Parent training should focus on correcting inaccurate parental beliefs and teaching effective ways to promote child development and manage maladaptive behaviors.
UNLABELLED: According to a study published in the present issue of Acta Paediatrica, mothers' reports of developmental delays in children of preschool age were associated with socio-economic factors. CONCLUSION: For the present, developmental screening procedures using parental assessments cannot be considered evidence based. National health service systems ensuring preventive health care for all children, regardless of socio-economic background, will form a more solid basis for early detection and treatment.
This study examined IQ change over a 2-year period in 291 young children (mean age 39 months) referred to a pediatric developmental clinic for evaluation of developmental problems. Although correlation between initial and follow-up IQ was very high (0.78), there was also a significant increase in mean IQ score, from 67.12 to 74.06. Moreover, 26% of the subjects showed IQ increase of 16 points or more. Variables making some contribution to IQ change were initial clinical diagnosis, etiology, and intervention. Children diagnosed with a developmental language disorder made significantly greater gains than those diagnosed as mentally retarded. Sex, family status, initial age, and test interval were not significantly correlated with IQ change. We concluded that prediction for individual children is difficult, but that initial diagnosis may be useful in differentially predicting IQ change in young children with developmental delays.
24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.
Two brothers whose parents are second cousins have short stature, femoral epiphyseal dysplasia, umbilical and inguinal herniae, sensorineural deafness and developmental delay. Both are facially dysmorphic in that the face is triangular in shape with a pointed chin when viewed from the front.
We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome.