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Normal Intelligence (normal + intelligence)
Selected AbstractsCognitive visual dysfunctions in preterm children with periventricular leukomalaciaDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 12 2009ELISA FAZZI MD PHD Aim, Cognitive visual dysfunctions (CVDs) reflect an impairment of the capacity to process visual information. The question of whether CVDs might be classifiable according to the nature and distribution of the underlying brain damage is an intriguing one in child neuropsychology. Method, We studied 22 children born preterm (12 males, 10 females; mean age at examination 8y, range 6,15y; mean gestational age 30wks, range 28,36wks) with periventricular leukomalacia, spastic diplegia, normal intelligence (mean Full-scale IQ 84; mean Verbal IQ 97; mean Performance IQ 74), and normal visual acuity, focusing on higher visual functions. Brain magnetic resonance images (MRI) were analysed to establish the presence of lesions along the primary optic pathway, in the occipitoparietal and occipitotemporal regions. Results, Most children displayed an uneven cognitive profile, with deficits in visual object recognition, visual imagery, visual,spatial skills, and visual memory, and sparing of visual associative abilities, non-verbal intelligence, and face and letter recognition. Conventional brain MRI did not document major alterations of parietal and temporal white matter, or cortical alteration of areas involved in visual associative functions. Interpretation, We suggest a widespread involvement of higher visual processing systems, involving both the ventral and dorsal streams, in preterm children with periventricular leukomalacia. The lack of major alterations on conventional MRI does not exclude the possibility of malfunctioning of higher visual processing systems, expressing itself through discrete CVDs. Possible mechanisms underlying these neuropsychological deficits are discussed. [source] Deletion of 8p: a report of a child with normal intelligenceDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 12 2001Linda Gilmore PhD The case is presented of a female infant with a distal deletion of 8p (8p23.1,pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p. [source] An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention DeficitsEPILEPSIA, Issue 12 2003Michael J. Doherty Summary:,Purpose: We describe two brothers with generalized epilepsy, attention deficits, congenital ichthyosis, and Leri,Weill dyschondrosteosis who harbor an unusual Xp; Yq translocation chromosome, resulting in a novel contiguous gene syndrome because of deletion of genes from the distal short arm of the X chromosome. Methods: Physical examination, neuropsychologic testing, EEG, and neuroimaging studies were performed. Because of their unusual phenotype, karyotyping, fluorescence in situ hybridization, and further molecular analyses were carried out to refine the break points of the underlying unbalanced sex chromosome rearrangement. Results: The subjects had generalized epilepsy, X-linked ichthyosis, Madelung deformities, mesomelia, normal intelligence, and attention deficits. The brothers' karyotype was unbalanced; they inherited a maternal derivative X chromosome. Deleted distal Xp genes included short-stature homeobox on the X chromosome (SHOX), aryl sulfatase E (ARSE), variably charged X-chromosome mRNA gene A (VCX-A), and steroid sulfatase (STS). The final karyotype was 46,Y,der(X)t(X; Y)(p22.3; q11.2).ish der(X) (DXZ1+, KAL+, STS-, SHOX-) mat. Conclusions: Loss of distal contiguous Xp genes resulted in a syndrome comprising bony deformities, ichthyosis, attention problems, and generalized epilepsy. Candidate epilepsy genes within the deleted segment, such as ASMT, a gene involved in the final synthesis of melatonin, are discussed. Cytogenetic analyses should be included in the clinical evaluation of patients with generalized epilepsy and complex phenotypes. [source] Detection of Childhood Visual Impairment in At-Risk GroupsJOURNAL OF POLICY AND PRACTICE IN INTELLECTUAL DISABILITIES, Issue 3 2007Heleen Evenhuis Abstract, Children with intellectual disabilities have an increased risk of visual impairment, caused by both ocular and cerebral abnormalities, but this risk has not been quantified. The same applies to preterm children and children with cerebral palsy with a normal intelligence. Many cases probably go unidentified, because participation of these children in preschool vision screening programs is not guaranteed, or because no screening program is available. Although there may be a case for specific screening, there is insufficient scientific evidence supporting such a claim. A "safety net" construction for vision screening is proposed by a Dutch expert working party, based on scientific information and joint professional expertise, to improve identification of both ocular and cerebral visual impairment in at-risk groups. Costs and gains of the model should be scientifically evaluated in a test region. [source] Difficult paediatric intubation when fibreoptic laryngoscopy failsPEDIATRIC ANESTHESIA, Issue 9 2002Agnes Ng Summary We report an unusual problem with fibreoptic bronchoscopy in an 8-year-old girl with Negar syndrome. She had a history of difficult airway since birth, and had undergone mandibular distraction for severe obstructive sleep apnoea when she was aged 2 years. Nagar syndrome is a Treacher,Collins like syndrome with normal intelligence, conductive bone deafness and problems with articulation. The patients have malar hypoplasia with down slanting palpebral fissures, high nasal bridge, micrognathia, absence of lower eyelashes, low set posteriorly rotated ears, preauricular tags, atresia of external ear canal, cleft palate, hypoplasia of thumb, with or without radius, and limited elbow extension. Protracted attempts with a fibreoptic bronchoscope failed to visualize the glottis, and this was only possible when the tube was guided to the larynx by blind nasal intubation. Apparently, the healing of the wounds for the mandibular distraction in the mandibular space on the inside of the rami of the mandible had caused differential fibrosis on either side of the hyoid, leading to a triplane distortion of the larynx with a left shift, clockwise rotation to a 2,8 o'clock direction and a slight tilt towards the left pharyngeal wall. The large epiglottis overlying this had precluded a view of the larynx. Finally, the older technique of breathguided intubation facilitated fibreoptic bronchoscopy to achieve tracheal intubation. [source] Mutations in PEX10 are a cause of autosomal recessive ataxiaANNALS OF NEUROLOGY, Issue 2 2010Luc Régal MD Peroxisomal biogenesis disorders typically cause severe multisystem disease and early death. We describe a child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, and decreased vibration sense. Both patients had marked cerebellar atrophy. Peroxisomal studies revealed a peroxisomal biogenesis disorder. Two mutations in PEX10 were found in the child, c.992G>A (novel) and c.764_765insA, and in the adult, c.2T>C (novel) and c.790C>T. Transfection with wild-type PEX10 corrected the fibroblast phenotype. Bile acid supplements and dietary restriction of phytanic acid were started. Peroxisomal biogenesis disorders should be considered in the differential diagnosis of autosomal recessive ataxia. ANN NEUROL 2010;68:259,263 [source] Megalencephalic leukoencephalopathy with cysts without MLC1 defectANNALS OF NEUROLOGY, Issue 6 2010Marjo S. van der Knaap MD Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disease characterized by early infantile macrocephaly and delayed motor and cognitive deterioration. Magnetic resonance imaging (MRI) shows diffusely abnormal and swollen cerebral white matter and subcortical cysts. On follow-up, atrophy ensues. Approximately 80% of MLC patients have mutations in MLC1. We report 16 MLC patients without MLC1 mutations. Eight retained the classical clinical and MRI phenotype. The other 8 showed major MRI improvement. They lacked motor decline. Five had normal intelligence; 3 displayed cognitive deficiency. In conclusion, 2 phenotypes can be distinguished among the non- MLC1 mutated MLC patients: a classical and a benign phenotype. ANN NEUROL 2010;67:834,837 [source] Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weaknessANNALS OF NEUROLOGY, Issue 5 2006Terumi Murakami MD Objective The fukutin gene (FKTN) is the causative gene for Fukuyama-type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation. In contrast with the severe dystrophic involvement of skeletal muscle, cardiac insufficiency is quite rare. Fukuyama-type congenital muscular dystrophy is one of the disorders associated with glycosylation defects of ,-dystroglycan, an indispensable molecule for intra-extra cell membrane linkage. Methods Protein and functional analyses of ,-dystroglycan and mutation screening of FKTN and other associated genes were performed. Results Surprisingly, we identified six patients in four families showing dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence, associated with a compound heterozygous FKTN mutation. One patient died by rapid progressive dilated cardiomyopathy at 12 years old, and the other patient received cardiac implantation at 18 years old. Skeletal muscles from the patients showed minimal dystrophic features but have altered glycosylation of ,-dystroglycan and reduced laminin binding ability. One cardiac muscle that underwent biopsy showed altered glycosylation of ,-dystroglycan similar to that observed in a Fukuyama-type congenital muscular dystrophy patient. Interpretation FKTN mutations could cause much wider spectrum of clinical features than previously perceived, including familial dilated cardiomyopathy and mildest limb girdle muscular dystrophy. Ann Neurol 2006 [source] Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophyANNALS OF NEUROLOGY, Issue 5 2006Caroline Godfrey BSc Objective Defects in glycosylation of ,-dystroglycan are associated with several forms of muscular dystrophy, often characterized by congenital onset and severe structural brain involvement, collectively known as dystroglycanopathies. Six causative genes have been identified in these disorders including fukutin. Mutations in fukutin cause Fukuyama congenital muscular dystrophy. This is the second most common form of muscular dystrophy in Japan and is invariably associated with mental retardation and structural brain defects. The aim of this study was to determine the genetic defect in two white families with a dystroglycanopathy. Methods The six genes responsible for dystroglycanopathies were studied in three children with a severe reduction of ,-dystroglycan in skeletal muscle. Results We identified pathogenic fukutin mutations in these two families. Affected children had normal intelligence and brain structure and shared a limb girdle muscular dystrophy (LGMD) phenotype, had marked elevation of serum creatine kinase, and were all ambulant with remarkable steroid responsiveness. Interpretation Our data suggest that fukutin mutations occur outside Japan and can be associated with much milder phenotypes than Fukuyama congenital muscular dystrophy. These findings significantly expand the spectrum of phenotypes associated with fukutin mutations to include this novel form of limb girdle muscular dystrophy that we propose to name LGMD2L. Ann Neurol 2006 [source] Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosisBRITISH JOURNAL OF DERMATOLOGY, Issue 3 2008S.A. Cuevas-Covarrubias Summary Background, X-linked ichthyosis (XLI), an inborn error of metabolism, is due to steroid sulphatase (STS) deficiency. Most patients with XLI harbour complete deletion of the STS gene and flanking sequences. The presence of low copy number repeats on either side of the STS gene seems to have a major role in the high frequency of these deletions. Some patients with XLI with terminal deletions of Xp22.3 involving marker DXS1139 and the STS gene show mental retardation (MR); VCX3A is the only gene located on this critical region. Objectives, To analyse the VCX3A, VCX, VCX2 and VCX3B genes in 80 unrelated Mexican patients with XLI with normal intelligence. Methods, STS activity was measured in the leucocytes using 7-[3H]-dehydroepiandrosterone sulphate as a substrate. Amplification of the regions from telomeric DXS89 to centromeric DXS1134 including both extremes of the STS and the VCX3A, VCX, VCX2 and VCX3B genes was performed using polymerase chain reaction. Results, No STS activity was detected in the patients with XLI (0ˇ00 pmol mg,1 protein h,1). We observed two different deletion patterns: the first group included 62 patients with deletion of VCX3A and VCX genes. The second group included 18 patients with breakpoints at several regions on either side of the STS gene not including the VCX3A gene. Conclusions, These data indicate that more complex mechanisms, apart from possible VCX3A gene participation, are occurring in the genesis of MR in XLI, at least in the sample of Mexican patients analysed. [source] Learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuriaCHILD: CARE, HEALTH AND DEVELOPMENT, Issue 5 2004C. Shaw-Smith Abstract Universal screening introduced in the 1960s has reduced the incidence of learning disability resulting from phenylketonuria (PKU), which is a treatable condition. Nonetheless, PKU may still be having an impact on the paediatric-age population. We report a woman with previously undiagnosed PKU who was born before the onset of universal screening. She is of normal intelligence, and so the diagnosis was not suspected until after the birth of her three children. Her serum phenylalanine concentration was found to be in excess of 1 mmol/L, well into the toxic range. She has had three sons, all of whom have a significant degree of learning disability resulting from intrauterine exposure to toxic levels of phenylalanine. None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis. We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU. [source] | ||||||||||