Microcephaly among those with developmental delay
Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay
... H. Fryssira 1 , E. Tsoutsou 1 , S. Psoni 1 , S. Amenta 2 , T. Liehr 6 , E. Anastasakis 7 , Ch Skentou 5 , A. Ntouflia 3 , I. Papoulidis 3 , E. Manolakos 3,8* and N. Chaliasos 4 Abstract Background: FOXG1 gene mutations ...
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De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
... global developmental delay and craniofacial anomalies that shares significant clinical features with Bohring- Opitz ...trigonocephaly, microcephaly, feeding difficulties, and severe learning ...
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Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
... Miao He, … , Michael E. Zwick, Jerry Vockley J Clin Invest. 2011;121(3):976-984. https://doi.org/10.1172/JCI42650. Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the ...
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Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
... J Clin Invest. 2011;121(3):976-984. https://doi.org/10.1172/JCI42650. Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and ...
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A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
... with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and ...
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The use of array-CGH in a cohort of Greek children with developmental delay
... Proximal 10q duplication ( Patient 2 ) is a well defined but rare genetic syndrome [12-19]. This represents the first case of partial proximal trisomy 10q characterized by array-CGH (Figure 2). The typical profile of ...
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Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability
... whose deletion or duplication is associated with a specific phenotype; the recurrent microdeletion and microduplica- tion syndromes. Herein reported region of 2p16.1p15 was identified as a new microdeletion syndrome ...
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Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
... OR:2.57), microcephaly (34%, ...CMA. Among these patients, 24 (92%) were iden- tified with pCNVs, including 11 cases with the genomic content of marker chromosomes revealed, 3 cases with gain or loss found ...
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Vocalization of Emotional and Social Expressions in Korean Speaking Toddlers with Autism Spectrum Disorder and Those with Developmental Delay
... problems with social interaction and motivation and struggle with social functions of language as a result of the very initial phase of language acquisition. 4 In contrast, children with DD may or may not have language ...
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Understanding delay in developmental disorders
... in developmental disorders frequently refer to abilities that are in line with mental age as simply ...of developmental delay that is well understood and uninteresting (perhaps because it is an ...
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Developmental delay An information guide for parents
... When uncertainty and frustration persist or when worry or anger fail to resolve, it is generally helpful for families to talk about these difficulties with one of the workers who is familiar with their child. Parents may ...
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Screening for developmental delay among children attending a rural community welfare clinic in Ghana
... suffer delay in communication ...had delay in communication ...with delay, between the present and the previous studies may be attributed to several factors including evaluation tool utilized and ...
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Factors influencing developmental delay among young children in poor rural China: a latent variable approach
... with those of previous studies that demonstrated the protec- tive effects of parent-child interactions, children’s books and optimistic caregivers on child ...depression among caregivers was alarmingly high ...
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Genomic diagnosis for children with intellectual disability and/or developmental delay
... As shown in Table 3, these efforts led to an increase in pathogenicity score for 15 variants in 17 individuals. In nine cases, a new publication became available that allowed a variant that had not been previously ...
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Developmental Delay in Children: Assessment with Proton MR Spectroscopy
... resembled those of healthy children much younger than 2 years (Fig ...tal delay and normal brain MR images may have hypomyelination or decreased synaptic density as an underlying cause, which was detected ...
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A study to assess the factors associated with developmental delay and nutritional status among the children with cleft lip and/or cleft palate
... with developmental delay and nutritional status among the children with cleft lip and/or cleft ...for developmental delay and growth ...palate. Developmental delay was ...
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Factors Influencing Institutional-Based Pediatric Rehabilitation Services among Caregivers of Children with Developmental Delay in Southwestern Rajasthan.
... with developmental delay access rehabilitation facilities in ...utilization among children with developmental delay at a tertiary care setup and to ascertain factors that influence this ...
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Differentiation of Speech Delay and Global Developmental Delay in Children Using DTI Tractography Based Connectome
... and those with ...from those with GD on the basis of objective parameters at a very young age when differentiation between these 2 conditions is usually FIG ...
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A Comparison of Motor Delays in Young Children: Autism Spectrum Disorder, Developmental Delay, and Developmental Concerns
... complete developmental evalua- tions that include assessment of their motor function- ...had developmental concerns without motor delay, the motor scores of young children with ASD did not differ ...
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Neonatal morbidities and developmental delay in moderately preterm-born children
... For those neonatal morbidities that had signi fi- cant associations in the multivariate analyses, we also assessed which ASQ domains were involved and carried out further investigations concerning the variable and ...
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