Global Developmental Delay
A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability
... largely overlapped with the duplication detected in our pa- tient. Our patient had the smallest duplication among these four patients with large duplication centered on 15q21.1. We noticed that three patients (our ...
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A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities
... disability, global developmental delay, and congenital anomalies including agenesis of the corpus callosum, Hirschsprung disease, genitourinary anomalies, hypospa- dias, congenital heart disease, ...
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De novoframeshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
... In this study we provide the second report and fifth patient with pathogenic mutations in ASXL3 . Our case provides additional evidence that, indeed, truncating frameshift mutations in the ASXL3 gene are the cause of a ...
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Predictors of severity and outcome of global developmental delay without definitive etiologic yield: a prospective observational study
... term global developmental delay (GDD) is used to describe developmental disability in children less than 5 years of age [3], and refers to a significant delay in at least two of the ...
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Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
... Global developmental delay is the term that is used to describe children (aged 5 years or younger) who have demonstrated several significant delays in the following areas: cognitive, speech, ...
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A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies
... Microdeletions at 19q13.2 are very rare. So far, only two cases carrying a microdeletion at 19q13.2 have been reported who share similar clinical features including Diamond-Blackfan anemia, global ...
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Differentiation of Speech Delay and Global Developmental Delay in Children Using DTI Tractography Based Connectome
... significant global developmental delay de- fined by impaired global cognition (IQ ⬍ 70) and adaptive behav- ioral functioning impaired in at least 2 developmental domains (gross/fine ...
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Study of Weekly Supervised Home Based Developmental Activity Program for Children with Global Developmental Delay
... only 52 children (39%) could complete the study. In a study by Lakhan R et al [20] they could enroll 67 children from 63 villages of a particular block from India who were adherent to therapy. In a study by Mei.-Hua Tang ...
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Analysis of Clinical Features Predicting Etiologic Yield in the Assessment of Global Developmental Delay
... ulation does not include entities identified during the mandatory Quebec newborn screening program (ie, hy- pothyroidism and amino acidopathies), as well as syn- dromic diagnoses that are readily made in the neonatal or ...
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Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case report
... important developmental pathways are also covered by contigs of BACs to fill in the chromosome arms and provide higher resolution with an average gap size between contigs of ...
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A Systematic Genetic Assessment of ARFGEF2 Mutations in Periventricular Heterotopia
... further developmental milestones by 9 months of ...microcephaly, global developmental delay, intellectual disability, myoclonic seizures, and abnormal dystonic movements of the hands, axial ...
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Study of perinatal factors in children with developmental delay
... for global developmental delay namely low birth weight, maternal illnesses, and predisposition to neonatal sepsis, neonatal seizures leading to prolonged stay at ...
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A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay
... Monocarboxylate transporter 8 acts as a specific cell membrane transporter for thyroxine and especially triiodothy- ronine into target cells. It is expressed in brain neurons and in many other tissues. The ...
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Deletion 22q13.3 syndrome
... hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic ...hypotonia, developmental delay, speech delay ...
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The use of array-CGH in a cohort of Greek children with developmental delay
... Results: Fourteen CNVs were detected in the studied patients. In nine patients (11%) the chromosomal aberrations were inherited from one of the parents. One patients showed two duplications, a 550 kb duplication in ...
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Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
... Deciphering Developmental Disorders (DDD) study, Autism Sequencing Consortium (ASC), and Simons Simplex Collection (SSC), have firmly estab- lished the importance of germline DNMs in NDDs [6, 10, 11, 13, 42, ...
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Operationalizing atypical gaze in toddlers with autism spectrum disorders: a cohesion-based approach
... This is the first study to apply a data-driven cohesion-based approach to the analysis of eye-tracking data collected in response to dynamic complex scenes in toddlers with and without social disability. This study ...
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Follow up of growth, development and clinical outcome in neonates discharged from the NICU of tertiary care hospital in central India
... of developmental delay on follow ...neurodevelopmental delay was significantly high in lower gestational ages, lower birth weight and associated risk ...
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The effectiveness of parent participation in occupational therapy for children with developmental delay
... The developmental ages were 5.3–61.2 months, and the average developmental age was ...were developmental delay or suspected developmental delay children, according to the ...
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Breastfeeding and Developmental Delay: Findings From the Millennium Cohort Study
... of developmental milestones during infancy and to inves- tigate the factors that influence ...motor delay and that increasing duration of breastfeeding seems to be associated with a reduced likelihood of ...
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