نتایج جستجو برای: global developmental delay

تعداد نتایج: 684130  

2015
DIANA MICLEA LOREDANA PECA ZINA CUZMICI IOAN VICTOR POP

Genetic factors are responsible for up to 40% developmental disability cases, such as global developmental delay/intellectual disability (GDD/DI). The American and more recently the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (...

2016
Santasree Banerjee Huishuang Chen Hui Huang Jing Wu Zhiyun Yang Weiping Deng Dongna Chen Jianlian Deng Yan Su Yang Li Chao Wu Ye Wang Hao Zeng Yiming Wang Xunhua Li

Microcephaly (MCPH) is a developmental disorder characterized by reduced brain size and intellectual disability. A proportion of microcephaly is caused by defects in a single gene. Microcephaly 2 (MCPH2) is one of the most frequent subtypes of MCPH.WD repeat-containing protein 62 gene (WDR62) is the most frequently mutated gene in MCPH2 patients. Phenotypes involving dermatological changes in M...

2017
María Angeles Gutiérrez García María Luisa Martín Ruiz Diego Rivera Laura Vadillo Miguel Angel Valero Duboy

BACKGROUND EDUCERE ("Ubiquitous Detection Ecosystem to Care and Early Stimulation for Children with Developmental Disorders") is an ecosystem for ubiquitous detection, care, and early stimulation of children with developmental disorders. The objectives of this Spanish government-funded research and development project are to investigate, develop, and evaluate innovative solutions to detect chan...

ژورنال: توانبخشی 2013

Rubinstein Taybi syndrome is a rare genetic abnormality that includes such features as facial abnormalities, broad thumbs on the hands and feet, small stature, and developmental delay (including fine and gross motor, communication, problem solving, personal-social delays). This case report represents a 12 months old male baby, was referred for his Developmental Delay, and after investigations a...

Beaulieu‐Boycott‐Innes Syndrome (BBIS) which is an autosomal recessive disorder is defined by dysmorphic facial features and developmental delay. In this case study, we used the Age and Stages Questionnaire 2 (ASQ-2) for assessment of the developmental status of an Iranian 20-month-old girl displaying a complex BBIS phenotype. Rehabilitation interventions were designed and performed focusing on...

Journal: :iranian journal of medical sciences 0
parvaneh karimzadeh seyed hassan tonek farhad mahvelati shamsabadi

background: developmental delay is one of the most common problems of children referred to pediatric neurology clinics. while there are reports on rehabilitation and its effects, limited studies are available to delineate pharmacotherapy of such children. because many children with developmental delay have abnormal findings in electroencephalography, we aimed to treat a group of these children,...

Succinic semialdehyde dehydrogenase (SSADH) deficiency or 4-Hydroxybutyric Aciduria is an autosomal recessive inherited disorder of amma-aminobutyric acid (GABA) degradation. It is characterized by developmental delay, infantile-onset hypotonia, cognitive impairment language deficit, and ataxia. Epilepsy, aggression, Hyperkinetic behavior, hallucinations, and sleep disturbances have been descri...

Aims: Early childhood development is one of the priority areas of social determinants of health. A wide range of factors influence a childchr('39')s development. This study aimed to investigate the factors associated with developmental delay in children under 5 years. Instrument & Methods: This study was a case-control study that conducted from April to August 2019 in Hamadan city. 462 childre...

Journal: :Pediatric Neurology Briefs 1997

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