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Severe Developmental Delay (severe + developmental_delay)
Selected AbstractsCorrected head circumference centiles as a possible predictor of developmental performance in high-risk neonatal intensive care unit survivorsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 11 2005François V Bolduc MD FRCPC The aim of this study was to evaluate the predictive value of corrected head circumference (HC) centiles at 2 years of age with respect to developmental performance in a series of high-risk neonatal intensive care unit (NICU) survivors with microcephaly. The study used a retrospective review of the clinical files of children seen in a clinic devoted to the follow-up of all high-risk survivors of a hospital's level III NICU. All children with microcephaly (occipital-frontal circumference below the 2nd centile for sex) at 2 years of age were identified. The HC obtained at 2 years was corrected to the ages for which the absolute HC corresponded to either the 50th or 2nd centile for the child's sex. Of 312 high-risk patients followed, 38 (12.2%) were microcephalic. Fifteen performed below the 50th age-corrected HC centile (severe developmental delay), 12 performed between the 50th and 2nd age-corrected HC centile (moderate developmental delay), and 11 performed above the 2nd age-corrected HC centile (mild developmental delay). The absolute value of HC measurement was not a predictor of developmental performance. Of all clinical factors evaluated, only coexisting epilepsy was found to be a significant predictor of less than the 50th age-corrected HC centile developmental performance (Chi2=6.134, p=0.01). We conclude that in a high-risk population, the presence of microcephaly implies developmental impairment, though neither the absolute HC measurement nor the corrected HC centile is predictive. Coexisting epilepsy in this context appears to worsen developmental outcome. [source] Migrating Partial Seizures in Infancy: Expanding the Phenotype of a Rare Seizure SyndromeEPILEPSIA, Issue 4 2005Eric Marsh Summary:,Purpose: The constellation of early-onset, unprovoked, alternating electroclinical seizures and neurodevelopmental devastation was first described by Coppola et al. We report six new patients and the prospect of a more optimistic developmental outcome. Methods: Retrospective chart reviews were performed on six infants evaluated at the Children's Hospital of Philadelphia (five patients) and at Hershey Medical Center (one patient) who had electroclinically alternating seizures before age 6 months of age. Electroclinical characteristics and long-term follow-up were recorded. Results: All had unprovoked, early-onset (range, 1 day to 3 months; mean, 25 days) intractable electroclinical seizures that alternated between the two hemispheres. Each patient underwent comprehensive brain imaging and neurometabolic workups, which were unrevealing. In all patients, subsequently intractable partial seizures developed and often a progressive decline of head circumference percentile occurred with age. Three demonstrated severe developmental delay and hypotonia. All survived, and 7-year follow-up on one patient was quite favorable. Conclusions: Our patients satisfied the seven major diagnostic criteria first described by Coppola et al. The prognosis of this rare neonatal-onset epilepsy syndrome from the original description and subsequent case reports was very poor, with 28% mortality, and the majority of survivors were profoundly retarded and nonambulatory. Our patient data validate the diagnostic criteria of this syndrome and further quantify a previously described observation of progressive decline of head circumference percentiles with age. Our data also suggest that the prognosis of this syndrome, although poor, is not as uniformly grim as the cases reported previously in the literature. [source] Genetic Malformations of the Cerebral Cortex and EpilepsyEPILEPSIA, Issue 2005Renzo Guerrini Summary:, We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in ,20% of sporadic patients. A rare recessive form of BPNH also has been reported. Most cases of lissencephaly,pachygyria are caused by mutations of LIS1 and XLIS genes. LIS1 mutations cause a more severe malformation posteriorly. Most children have isolated lissencephaly, with severe developmental delay and infantile spasms, but milder phenotypes have been recorded. XLIS usually causes anteriorly predominant lissencephaly in male patients and subcortical band heterotopia (SBH) in female patients. Thickness of the band and severity of pachygyria correlate with the likelihood of developing Lennox,Gastaut syndrome. Mutations of the coding region of XLIS are found in all reported pedigrees and in 50% of sporadic female patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia; accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the RELN gene. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene need confirmation. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to Xq28 in some pedigrees, autosomal recessive inheritance in others, and association with 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy, often Lennox,Gastaut syndrome. Recessive bilateral frontal polymicrogyria has been linked to chromosome 16q12.2,21. [source] Use of the Ages and Stages Questionnaire to predict outcome after hypoxic-ischaemic encephalopathy in the neonateJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 10 2008Natalie 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] A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coliACTA PAEDIATRICA, Issue 2004R Carrozzo A multidisciplinary strategy was used to identify the molecular defect in a family with Leigh syndrome (LS). The propositus presented severe developmental delay, an ataxic-spastic gait and seizures. She died at 3.5 y of age from cardiorespiratory arrest. Postmortem examination disclosed pathological features typical of LS. A 12-y-old sister is affected with the same disease. Respiratory chain enzyme complex activities in skeletal muscle biopsy were normal. Adenosine triphosphate (ATP) synthesis during oxidative phosphorylation in skin fibroblasts mitochondria showed a severely hampered ATP production. Mitochondrial DNA sequencing revealed a new mutation in the ATPase 6 gene (T9176G). Site-directed mutagenesis in Escherichia coli strains was used to measure H+ pumping and ATP synthesis. Results were comparable to findings obtained in human cells. These data corroborate the use of E. coli strains as a feasible "animal" model for functional studies in pathogenic mutations of the ATPase 6 gene. [source] | ||||||||||||||||||||||