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Tuesday, 07 January 2025

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Assuming rett is required, and syndrome is required, the following 22 results were found.

  1. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    Rett syndrome, a rare neurodevelopmental disorder predominantly affecting females, is characterized by profound physical and cognitive impairments. It was first described in 1966 by Dr. Andreas Rett, an Austrian pediatrician whose tireless work has...

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

  2. Gilles De La Tourette Syndromehttps://cnke.org/articles/260

    Overview Definition: Disorder characterized by multiple motor and vocal tics. Prevalence: Overall prevalence of 1% in children aged 5–18 years. Prevalence varies from 0.4–3.8% depending on country and diagnostic methodology (Eysturoy et al., 2015)....

    • Type: Article
    • Author: Editor
    • Category: Home

  3. Investigations in Epileptic Encephalopathieshttps://cnke.org/articles/321

    20 syndrome Down syndrome Single enzyme or protein dysfunction Cyclin-dependent kinase-like 5 (CDKL5) deficiency Rett Syndrome (MeCP2, CDKL5 or FOXG1-related) Cerebral malformations associated disorders Focal cortical dysplasia (TSC1 and TSC2)...

    • Type: Article
    • Author: Editor
    • Category: Home

  4. The Diagnosis of Rett Syndromehttps://cnke.org/articles/154

    The Diagnosis of Rett Syndrome (RTT) Introduction Definition: Rett Syndrome (RTT) is a rare neurodevelopmental disorder, primarily affecting females, characterized by developmental regression, loss of acquired skills, and stereotypic hand movements....

    • Type: Article
    • Author: Editor
    • Category: Home

  5. Rett Syndrome : Clinical Geneticshttps://cnke.org/articles/155

    History of Genetics in Rett Syndrome Early Theories: X-linked dominant, male-lethal (XDML) inheritance model. Differences in severity linked to X-chromosome inactivation (XCI). Key Genetic Discoveries: MECP2 mutations identified as the usual cause of...

    • Type: Article
    • Author: Editor
    • Category: Home

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

    Mitochondrial DNA depletion syndrome Transcription Factor Genes ARX X-linked infantile spasms Partington syndrome FOXG1 Rett syndrome variant Other Genes TSC1/TSC2 Tuberous sclerosis complex (associated with epilepsy) MTOR Focal cortical dysplasia...

    • Type: Article
    • Author: Editor
    • Category: Home

  7. NGN-401https://cnke.org/articles/160

    underlying genetic cause of RTT by delivering a functional copy of MECP2 using an adeno-associated virus (AAV) vector. Rett syndrome, predominantly affecting females, is characterized by early developmental regression, loss of purposeful hand use, gait...

    • Type: Article
    • Author: Editor
    • Category: Home

  8. Gilles de La Tourette Syndromehttps://cnke.org/topics/gilles-de-la-tourette-syndrome

    • Type: Tag
    • Author: Editor

  9. Tourette Syndromehttps://cnke.org/topics/tourette-syndrome

    • Type: Tag
    • Author: Editor

  10. Fragile X Syndromehttps://cnke.org/articles/578

    Differential Diagnosis Includes conditions with overlapping symptoms, such as: Sotos syndrome Prader-Willi syndrome Rett syndrome Autism Trisomy 21 Consultations Geneticists and neurodevelopmental specialists (e.g., pediatric neurologists)....

    • Type: Article
    • Author: Editor
    • Category: Home

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

    is currently being investigated for its role in treating rare and complex neurological conditions, including: Rett Syndrome: A neurodevelopmental disorder predominantly affecting females, characterized by severe cognitive, motor, and communication...

    • Type: Article
    • Author: Editor
    • Category: Home

  12. Investigations in Movement Disordershttps://cnke.org/articles/354

    Infancy (first 2 years of life) Neonatal Prader - Willi syndrome - hypokinesia and limb dystonia - fluorescent in situ hybridization/multiplex ligation-dependent probe amplification for deletion paternally inherited chromosome 15 Neonatal...

    • Type: Article
    • Author: Editor
    • Category: Home

  13. Rett Syndromehttps://cnke.org/topics/rett-syndrome

    • Type: Tag
    • Author: Editor

  14. Rett Syndrome : Orthopaedic issueshttps://cnke.org/articles/157

    Proactive monitoring, early intervention, and individualized management to optimize the musculoskeletal health and quality of life for individuals with RTT is important. Key Highlights: Musculoskeletal Challenges in RTT: Hypotonia and Weakness: Early...

    • Type: Article
    • Author: Editor
    • Category: Home

  15. Sleep issues in Rett Syndromehttps://cnke.org/articles/158

    Key points: Prevalence and Onset: Sleep problems affect 70–80% of individuals with RTT, with onset becoming evident between 18 months and 2 years. Sleep disturbances in RTT are significantly more common than in typically developing children. Sleep...

    • Type: Article
    • Author: Editor
    • Category: Home

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

    Genetics: RTT is an X-linked neurodevelopmental disorder primarily affecting females, caused by mutations in the MECP2 gene. Phenotypic Variability: Includes classical and atypical forms, with overlapping features in autism spectrum disorders....

    • Type: Article
    • Author: Editor
    • Category: Home

  17. Pantothenate Kinase-Associated Neurodegeneration (PKAN)https://cnke.org/articles/46

    Overview Pantothenate kinase-associated neurodegeneration (PKAN) is a rare form of neurodegeneration with brain iron accumulation (NBIA), with an estimated prevalence of 1:1,000,000 (Hayflick et al., 2006). PKAN is caused by mutations in the PANK2 gene...

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

  18. Measures for Hypertonia, Ataxia, and Ticshttps://cnke.org/articles/198

    List of various measures and scales for the assessment of hypertonia, ataxia and tics General Hypertonia Assessment Tools Hypertonia Assessment Tool (HAT): Differentiates between spasticity, dystonia, and rigidity in children. Modified Tardieu Scale...

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

  19. Comparitive genomic hybridization (CGH) https://cnke.org/articles/288

    of Neurology; Child Neurology Society Karyotyping; molecular fragile X testing; selected subtelomeric FISH testing; Rett Syndrome testing where appropriate Shevell et al., 2003 American College of Medical Genetics Karyotyping (>550 bands); FISH testing...

    • Type: Article
    • Author: Editor
    • Category: Home

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

    or psychiatric conditions are common in affected populations. Epidemiology: Seen in individuals with Angelman syndrome, Rett syndrome, congenital blindness, or traumatic brain injury. These populations exhibit impaired SCN function and reduced circadian...

    • Type: Article
    • Author: Editor
    • Category: Home
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