Development Delay

The purpose of this study is to examine the effectiveness of a 12-week early intervention program that will include 12 weekly hours in an intensive center-based preschool environment or in the home to treat social communication deficits in children with developmental disorders. The study will include children with developmental disorders, such as Autism Spectrum Disorder, neurogenetic disorders, or intellectual disability.

The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder also known as Baker Gordon Syndrome (BAGOS). This will be performed by acquiring baseline measurements and developing effective outcome measures and diagnostic tools for the disorder, to prepare the healthcare system for future clinical trials.

The goal of this observational study is to investigate perinatal, cognitive, linguistic and social-emotional correlates of developmental delays of preschool children. The study group consist of minimal 500 children between 3 and 6 years of age who will be examined by qualified diagnosticians. Participants will be evaluated with tasks related to the studied variables: cognitive functioning, linguistic skills and social-emotional functioning. Furthermore informations regarding social-emotional functioning of children, will be collected from parents. The main questions it aims to answer are: 1. Is there a relationship between perinatal factors and risk of occurrence of developmental delay disorder? 2. Is there a specific pattern of cognitive functioning in preschool children with indicated developmental delay disorder? 3. Is there a specific pattern of social-emotional functioning in preschool children with indicated developmental delay disorder? 4. Do gender and age moderates specific patterns of cognitive and socialemotional functioning in the studied groups? Researchers will compare the following groups of children between 3 and 6 years old: 1. With perinatal risks factors 2. With developmental delay disorder: 1. children with early intervention 2. children with delayed speech development 3. Control group

The goal of this observational cross-sectional study is to study the results of karyotyping analysis for children presented with congenital anomalies and developmental delay aged 1 month to 12 years, the need for further genetic tastings and identification of parents who are carrier of balanced chromosomal translocations. The main question it aims to answer: What the is the incidence of congenital anomalies tested by karyotyping and the type of chromosomal abnormalities causing the clinical features. Researcher will take detailed clinical history, physical examination and developmental assessment for children and interpret karyotyping results. For participants data will be collected regarding: 1. History will be taken including demographic data of child age, parental age, consanguinity and relevant family history and developmental history. 2. Clinical examination for any fascial dysmorphism, congenital heart disease, skeletal deformities, renal anomalies or any associated features. 3. Clinical assessment of developmental milestones. 4. Investigations done including laboratory tests, ultrasound scan, x-rays, CT scan, echocardiography or any other investigation. 5. Karyotyping results detected if aneuploidy or structural abnormality including chromosomal deletions, duplications, translocations or inversions. 6. Other genetics tests done including Comparative microarray, FISH (Fluorescence in Situ Hybridization), and WES (Whole Exome Sequencing). 7. If parental karyotyping for suspected translocations was done.

The goal of this prospective cohort study is to investigate the vestibular function in children suspected of balance disorders, and to follow up on their balance progressions after rehabilitation. The main hypothesis of the study is that delayed gross motor development and symptoms of dizziness and balance problems in some children are caused by vestibular dysfunction. The investigators expect that early detection and rehabilitation by a physiotherapist will improve the balance ability for the child. The participants will be children in the age of 6 months to 10 years with delayed gross motor development and/or with dizziness/balance problems. The test protocol consists of questionnaires, hearing screening and vestibular and postural assessments.

This study aims to determine the feasibility, acceptability and potential efficacy of an individual, video-conferencing based Focused Acceptance and Commitment Therapy (FACT) on the mental well-being of parents of children with Special Health Care Needs(SHCN). The study also aims to explore the experience of parents after participating in the individual-based FACT sessions offered by the trained FACT interventionists.

To compare the effects of task specific balance training vs task-oriented basketball training on balance and motor skills in children with developmental delay

The goal of this observational study is to learn about the impact of the diabetes drug glibenclamide (glyburide) on neurodevelopment in individuals with iDEND (developmental delay, epilepsy and neonatal diabetes) due to the V59M mutation in the KCNJ11 gene. The main question it aims to answer is whether initiating sulphonylurea (SU) therapy in the first year of life results in better neurodevelopmental outcomes in affected individuals, in comparison to starting therapy later than 12 months of age. Participants will undergo a neurodevelopmental assessment comprising parental and teacher completion of standardised questionnaires, and where possible face to face neuropsychological testing. Researchers will compare the outcomes of these standardised tests in the individuals who started SU therapy \<12 months of age in comparison to those who started \>12 months of age.