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Saturday, 12 April 2025

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Editor

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Entering this and that into the search form will return results containing both "this" and "that".

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Search results can also be filtered using a variety of criteria. Select one or more filters below to get started.

Assuming autism is required, the following 34 results were found.

  1. Biochemical investigations in Urinehttps://cnke.org/articles/167

    acid storage disease. 100-fold increase in sialuria Succinyl purines (Bratton-Marshall trst) Neonatal seizures, delay, autism, Angelman-like, + dysmorphism Freeze random morning urine; purine reference laboratory will confirm ↑ in adenylosuccinate lyase...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  2. Infantile Spasms: Treatmenthttps://cnke.org/articles/256

    hemispherotomy in appropriate cases. Adjunctive Therapies: Supportive therapies to address developmental delays and autism spectrum disorder. Multidisciplinary care involving neurologists, developmental pediatricians, and therapists. Outcome Measures...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  3. Speech and Language developmental disordershttps://cnke.org/articles/243

    early language acquisition (age 2). Associated with: SLI (Specific Language Impairment). Increased susceptibility to autism when combined with other risk factors. Encodes a neurexin protein involved in neuronal cell adhesion. Enriched expression in...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  4. Dentatorubral-Pallidoluysian Atrophy (DRPLA)https://cnke.org/articles/211

    intellectual disability Myoclonus and epilepsy (progressive myoclonic epilepsy phenotype) Developmental regression, ADHD, autism spectrum disorder, microcephaly (variable findings) Seizure Characteristics Resistant to anti-seizure medications Types...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  5. The Journey of Discovery: Unraveling Fragile X Syndromehttps://cnke.org/historical-vignettes/the-journey-of-discovery-unraveling-fragile-x-syndrome

    Fragile X Syndrome, the most common inherited cause of intellectual disability and autism spectrum disorder, is now a well-recognized condition. However, its discovery and understanding were long journeys marked by scientific curiosity, serendipity,...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  6. Circadian Rhythm Sleep-Wake Disorders (CRSWD)https://cnke.org/articles/164

    from 0.4% to 16% in adolescents, reflecting developmental susceptibility to circadian delays. High association with ADHD, autism spectrum disorder (ASD), and the normal sleep-phase delays of puberty. Pathophysiology: Includes circadian phase delays,...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  7. Trofinetidehttps://cnke.org/articles/161

    beyond rare conditions. Its mechanism may have broader applications in disorders involving synaptic dysfunction, such as autism spectrum disorder, Alzheimer’s disease, and other forms of dementia. Ongoing research is essential to fully understand its...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  8. Rett Syndrome : Therapy prospectshttps://cnke.org/articles/159

    by mutations in the MECP2 gene. Phenotypic Variability: Includes classical and atypical forms, with overlapping features in autism spectrum disorders. Challenges in Therapy: High genetic and clinical variability. Imperfect genotype-phenotype...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  9. Fetal Neurologyhttps://cnke.org/articles/355

    neurological and psychiatric conditions, have origins in fetal life. Conditions such as attention deficit disorder, autism, and schizophrenia linked to fetal development. Role of Fetal Neurology: Focus on intrauterine support of fetal brain development...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  10. Investigations - Urine Biochemistryhttps://cnke.org/articles/291

    acid storage disease. 100-fold increase in sialuria Succinyl purines (Bratton-Marshall trst) Neonatal seizures, delay, autism, Angelman-like, + dysmorphism Freeze random morning urine; purine reference laboratory will confirm ↑ in adenylosuccinate lyase...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  11. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Treatment: Levodopa/carbidopa. 9. Folate Deficiency (Cerebral Folate Deficiency) Presentation: Developmental delays, autism spectrum features. Key Investigations: CSF 5-MTHF low; serum folate normal. Treatment: Folinic acid. 10. Glucose Transporter 1...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  12. Neurofibromatosishttps://cnke.org/articles/283

    Disability: 4 to 8%, slightly higher than the general population (2 to 3%). Associated Conditions: Increased frequency of autism spectrum disorder. Learning Disabilities: Up to 65% of children with NF1, poor performance on tasks involving nonverbal...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  13. Common Epilepsy Geneshttps://cnke.org/articles/277

    SYN1 X-linked epilepsy LGI1 Autosomal dominant lateral temporal lobe epilepsy NRXN1 Schizophrenia and epilepsy NLGN1 Autism spectrum disorders and epilepsy Metabolic Pathway Genes ALDH7A1 Pyridoxine-dependent epilepsy PANK2 Pantothenate...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  14. Insomnia in childrenhttps://cnke.org/articles/242

    in circadian rhythms, leading to severe disruption of family life. Conditions associated with these disturbances include: Autism Spectrum Disorders Angelman Syndrome Smith-Magenis Syndrome Severe Cerebral Palsy Blindness Treatment Melatonin: Found to be...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 21 - 34 of 34