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Saturday, 12 April 2025

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Editor

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Assuming icas is required, the following 236 results were found.

  1. Investigating Lysosomal disordershttps://cnke.org/articles/163

    Lysosomal enzyme deficiencies may be sought in serum or plasma, in leukocytes (white cell pellet) or in cultured fibroblasts. Although it is evident that there is great variation in the severity of the neurological disorders which may result from a...

    • Type: Article
    • Author: ICNA
    • Category: Articles

  2. Investigations in Peroxisomal Disordershttps://cnke.org/articles/466

    Peroxisomes are spherical 1pm diameter organelles with a multitude of oxidative and other enzymes packed within a single-layered membrane (http://www.peroxisomedb.org) global' peroxisomal disorders with impaired peroxisomal biogenesis (fewer or even no...

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

  3. Brody diseasehttps://cnke.org/articles/233

    Brody disease is a rare genetic disorder affecting muscle function, classified as a form of myopathy. It typically presents in childhood and is characterized by symptoms such as progressive exercise-induced muscle stiffness and myalgia (muscle pain)....

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

  4. 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

  5. Augmentative and Alternative Communicationhttps://cnke.org/topics/augmentative-and-alternative-communication

    • Type: Tag
    • Author: Editor CNKE

  6. Voice Output Communication Aidshttps://cnke.org/topics/voice-output-communication-aids

    • Type: Tag
    • Author: Editor CNKE

  7. 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 CNKE
    • Category: Articles

  8. Epilepsy in Rett Syndromehttps://cnke.org/articles/156

    Introduction Prevalence: Epilepsy affects 50–70% of individuals with RTT, though earlier studies suggested rates as high as 90%. Variability in study designs and diagnostic criteria contribute to these differences. Epileptic and Nonepileptic Events:...

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

  9. Helmet therapy for cranial deformitieshttps://cnke.org/articles/helmet-therapy-for-cranial-deformities

    Helmet therapy also known as cranial orthotic therapy, uses custom-made helmets to gently reshape the skull in infants with positional cranial deformities Mechanism of Action Helmets provide passive, dynamic pressure, redirecting cranial growth toward...

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

  10. Neurological Reflexeshttps://cnke.org/topics/neurological-reflexes

    • Type: Tag
    • Author: Editor CNKE

  11. Pompe Diseasehttps://cnke.org/articles/470

    Overview Definition: Pompe disease is a lysosomal storage disorder caused by defective glycogenolysis, leading to glycogen accumulation in lysosomes. Pathophysiology: Lysosome rupture leads to tissue damage. Primarily affects skeletal and cardiac...

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

  12. Aphasia/Dysphasiahttps://cnke.org/articles/249

    Aphasia/Dysphasia Acquired disruption of language function (expressive or receptive/mixed). Can be fluent or non-fluent. Causes: Brain trauma, stroke, cerebral infections (e.g., herpes simplex encephalitis), neoplasms, and neurodegenerative diseases...

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

  13. Stiff Person Syndromehttps://cnke.org/articles/235

    Stiff Person Syndrome (SPS) is a rare neurological disorder typically affecting adults, with infrequent cases reported in children and adolescents. The condition is characterized by the following clinical and pathophysiological features: Clinical...

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

  14. Malignant Hyperthermiahttps://cnke.org/articles/238

    Malignant hyperthermia (MH) is a life-threatening pharmacogenomic disorder triggered by certain anesthetic agents (e.g., halothane) or depolarizing muscle relaxants like succinylcholine. These agents cause uncontrolled calcium release in skeletal...

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

  15. Glasgow Coma Scalehttps://cnke.org/articles/306

    ActivityScore Infant (1-12m) Score Child (1y+) Eye opening 4 spontaneously 4 spontaneously 3 to speech 3 to command 2 to pain 2 to pain 1 no response 1 no response Best verbal response 5 coos, babbles 5 oriented 4 irritable, cries 4 confused 3 cries to...

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

  16. Gaucher Diseasehttps://cnke.org/articles/471

    Overview Most prevalent lysosomal storage disorder. Elevated incidence in Ashkenazi Jews (6% carrier frequency). Autosomal recessive inborn error of metabolism. Caused by mutations in the GBA1 gene, leading to deficient glucocerebrosidase activity....

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

  17. Schwartz-Jampel Syndrome (SJS)https://cnke.org/articles/328

    The first case of Schwartz-Jampel syndrome (SJS) or chondrodystrophic myotonia was explained in 1962 by Oscar Schwartz and Robert S. Jampel in siblings with myotonic myopathy and blepharophimosis. Classification: Type 1A: Recognized in childhood,...

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

  18. Aicardi-Goutières syndromehttps://cnke.org/topics/aicardi-goutieres-syndrome

    • Type: Tag
    • Author: Editor CNKE

  19. Join the Child Neurology Wiki Editorial Team!https://cnke.org/about/join-the-editorial-team

    Are you a professional dedicated to advancing the field of child neurology? Do you have a passion for sharing knowledge and contributing to a global community? If so, the We invite you to join the Child Neurology Wiki editorial team! Why Become a Child...

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

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

    Overview Insomnia, or difficulty in sleeping, is a common issue among young children, with approximately 30% experiencing periods of sleep disturbances before the age of five. This often manifests as difficulty falling asleep or staying asleep....

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 141 - 160 of 236