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Mild Delay (mild + delay)

Distribution by Scientific Domains

Medical Sciences	75%

Selected Abstracts

Use of the Ages and Stages Questionnaire to predict outcome after hypoxic-ischaemic encephalopathy in the neonate

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 10 2008
Natalie M Lindsay
Background: Infants who suffer hypoxic-ischaemic encephalopathy (HIE) at birth are at increased risk of developmental disability. In this at-risk population, reliable, inexpensive and early identification of those children who are likely to require formal developmental assessment and intervention is needed. Aim: To evaluate the ability of the Ages and Stages Questionnaire (ASQ) to detect developmentally delayed children in an Australian population of infants who suffered HIE at birth. Methods: Fifty-five children who survived HIE were followed until 12,14 months of age. Test characteristics were calculated to examine the ability of the ASQ to appropriately identify developmentally delayed infants against this study's ,gold standard': the Bayley Scales of Infant Development II. Results: Comparing the ASQ with the Bayley Scales of Infant Development II, the questionnaire had the following test characteristics: sensitivity 92%, specificity 95%, positive predictive value 92%, negative predictive value 95% when used to detect severe developmental delay; and sensitivity 67%, specificity 93%, positive predictive value 92%, negative predictive value 68% when used to detect both severe and mild developmental delay. However, the ASQ used at standard cut-offs failed to detect any of the children with mild delay. Conclusions: The ASQ is extremely effective for the detection of severe developmental delay in children who have suffered HIE at birth. Its capacity to identify those with milder delay is limited. The ability of the test to detect only those with severe developmental delay means that the ASQ is of little value as a screening tool in this population. [source]

Fetal Alcohol Spectrum Disorders in Children Residing in Russian Orphanages: A Phenotypic Survey

ALCOHOLISM, Issue 3 2006
Laurie C. Miller
Background: Alcohol use in Russia is among the highest in the world. Over 600,000 children reside in institutional care in Russia, most of them in baby homes and orphanages. The actual prevalence of fetal alcohol spectrum disorders (FASD) among these children is unknown. Therefore, we performed a systematic survey of phenotypic features associated with prenatal alcohol exposure among institutionalized Russian children and related these findings to their growth, development, medical, and social histories. Methods: Phenotypic screening was conducted of all 234 baby home residents in the Murmansk region of Russia (mean age 21+12.6 months). Phenotypic expression scores were devised based on facial dysmorphology and other readily observable physical findings. Growth measurements from birth, time of placement in the baby home, and at present were analyzed. In addition, the charts of 64% of the children were randomly selected for retrospective review. Information collected included maternal, medical, developmental, and social histories. Results: Thirteen percent of children had facial phenotype scores highly compatible with prenatal alcohol exposure and 45% had intermediate facial phenotype scores. These scores correlated with maternal gravidity and age. At least 40% of mothers in whom history was available ingested alcohol during pregnancy; some also used illicit drugs and tobacco. Z scores for growth measurements corresponded to phenotypic score, as did the degree of developmental delay. Children with no or mild delay had significantly lower phenotypic scores than those with moderate or severe delay (p=0.04); more than 70% of children with high phenotypic scores were moderately or severely delayed. Conclusions: More than half of residents of the baby homes in Murmansk, Russia, have intermediate (45%) or high (13%) phenotypic expression scores suggesting prenatal exposure to alcohol. Despite good physical care, stable daily routine, availability of well-trained specialists, and access to medical care, these vulnerable children show significant growth and developmental delays compared with their institutionalized peers. [source]

Neurodevelopment of children born very preterm and free of severe disabilities: the Nord-Pas de Calais Epipage cohort study

ACTA PAEDIATRICA, Issue 5 2010
ML Charkaluk
Abstract Aim:, To describe the development of very preterm children free of cerebral palsy or severe sensory impairment in the domains of gross and fine motor functions, language and sociability at a corrected age of 2 years; to identify factors associated with performances in each domain. Methods:, A total of 347 children born in 1997 before 33 weeks of gestation, part of the EPIPAGE population-based cohort study, had their psychomotor development assessed with the Brunet-Lezine scale. Results:, The study population had a mean gestational age of 30.1 ± 2.0 weeks. Lower developmental quotients (DQ) were observed in the study group compared to the reference sample (96 ± 13 vs 104 ± 8, p < 0.01). Fine motor function, language and sociability were all affected with a p value <0.01. Multivariate analysis showed that duration of intubation and parents' educational and occupational levels were the only variables significantly related to each developmental domain (p < 0.01). Conclusions:, Children very preterm and free of severe disabilities had mild delays in multiple areas of development. The mechanisms by which neonatal factors played a role need further investigation. However socioeconomic status had a great impact on development and our results underline the need for improved support of socioeconomically disadvantaged parents after a preterm birth. [source]

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

CLINICAL GENETICS, Issue 5 2004
SJ Hassed
Fluorescence in situ hybridization (FISH) analysis can reveal undetected chromosomal rearrangements. We report a patient with cleft palate, hydronephrosis, and minor dysmorphic features, including low-set posteriorly rotated ears, down-slanting palpebral fissures, mandibular micrognathia, and brachymesophalangia. Routine chromosome analysis identified no abnormality of chromosome 22; FISH analysis with the TUPLE1 probe disclosed an interstitial duplication of 22q11.2. FISH analysis did not reveal the duplication on the initial testing of metaphase chromosomes, although, on review, the area was brighter on one chromosome in each metaphase spread. FISH analysis of interphase cells showed three TUPLE1-probe sites with two chromosome-specific identification probes in each cell. Family history showed two older full siblings, a brother with behavior problems, oppositional defiant disorder, and learning problems and a sister with hydronephrosis and mild delays. The father and both siblings had similar facial features, and all three had the same interstitial duplication of the TUPLE1 probe. This family illustrates the novel complementary duplication syndrome of the velocardiofacial syndrome, which adds it to the expanding list of genomic deletion/duplication syndromes. The laboratory results further show the utility and need for careful analysis of interphase cells even in samples where good quality metaphases are available. [source]