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Saturday, 04 January 2025

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Assuming sca is required, the following 54 results were found.

  1. Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183

    including movement disorders such as chorea, along with progressive neurological symptoms. Spinocerebellar Ataxias (SCAs) SCA2/ATXN2 (large CAG expansion) Spinocerebellar Ataxia Type 2 can involve chorea in the advanced stages of the disease, along with...

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  2. Psychometric measureshttps://cnke.org/articles/197

    neuropsychaological assessment of children based on the domains they assess. General Cognitive Ability Wechsler Intelligence Scale for Children (WISC-V) Stanford-Binet Intelligence Scales (SB5) Kaufman Assessment Battery for Children (KABC-II)...

    • Type: Article
    • Author: Editor CNKE
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  3. Measures for Hypertonia, Ataxia, and Ticshttps://cnke.org/articles/198

    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 (MTS):...

    • Type: Article
    • Author: Editor CNKE
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  4. Hereditary ataxias due to repeat expansionshttps://cnke.org/articles/186

    can assist in the diagnosis by revealing characteristic patterns of atrophy. The spectrum of spinocerebellar ataxias (SCAs) varies widely in clinical features, onset age, and genetic causes. Repeat expansion size influences severity and associated...

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  5. Incontinentia Pigmentihttps://cnke.org/articles/475

    Onset: ~6 months; persists into adulthood, fades in late teens/20s. Stage IV (Atretic): Linear hypopigmentation, alopecia (scalp, trunk, extremities). Follows fading hyperpigmentation; not present in all individuals. Hair: Alopecia (patchy or...

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  6. Self Injurious Behaviour (SIB) https://cnke.org/articles/229

    and those with developmental disorders. Aberrant Behavior Checklist[4] Behavior Problems Inventory-01[5] Children’s Scale of Hostility and Aggression: Reactive/Proactive[6] Developmental Behavior Checklist[7] Nisonger Child Behavior Rating Form[8]...

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  7. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    Areflexia Syndrome (CANVAS) Gene: RFC1 (AAGGG repeat expansion) Onset: Usually adult (mean 54 years) Spinocerebellar Ataxias (SCAs) Most common ADCAs Several types (SCA1, SCA2, SCA3, etc.) Often due to CAG repeat expansions Fragile X-associated...

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    • Author: Editor CNKE
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  8. NGN-401https://cnke.org/articles/160

    Findings: Restoration of MECP2 expression normalized dendritic spine morphology and synaptic density. Safety Profile: Dose-escalation studies confirmed minimal off-target effects and no evidence of systemic toxicity. Clinical Trials Initial Phase I/II...

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  9. Progressive myoclonus epilepsy https://cnke.org/articles/258

    88% of LD families accounted for by mutations in EPM2A (48%) and EPM2B (40%) (Chan 2003). Third genome-wide linkage scan underway to identify additional LD genes. Laforin Protein–Protein Interactors Three candidate protein partners identified using...

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  10. Opsoclonus Myoclonus Ataxia Syndromehttps://cnke.org/articles/330

    given before tumor resection if there is delay in surgery. There remains uncertainty as to the benefits of a regimen of escalation of treatment vs front-loading treatment. Some children will respond to steroid treatment alone and will therefore be...

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  11. Metabolic derangements and Autismhttps://cnke.org/articles/126

    benefit of the diet was found (Hyman et al., 2016). Other small randomized-control trials showed improvements on parent-rated scales but lacked monitoring of diet adherence or concurrent ASD treatments (Knivsberg et al., 2002; Whiteley et al., 2010). A...

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    • Author: Editor CNKE
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  12. Glasgow coma scalehttps://cnke.org/topics/glasgow-coma-scale

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  13. The Normal EEG in Childrenhttps://cnke.org/articles/25

    childhood population. Lambda Waves Lambda waves are sharply contoured occipital transients evoked by saccadic eye movements scanning a well-illuminated picture or complex design. The most constant and prominent phase is surface positive, whose duration...

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    • Author: Editor CNKE
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  14. Nesprinopathieshttps://cnke.org/articles/318

    2007, recessive mutations in SYNE1 were identified as a cause of pure cerebellar ataxia in French-Canadian families, termed SCAR8 or ARCA1 (Gros-Louis et al., 2007). Japanese patients with SYNE1 mutations showed SCAR8 with motor neuron disease,...

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

    D. (ed) Neuro-Oncology for Nurses. London: Whurr Publishers 4. Fischer J, Mathieson C. The history of the Glasgow Coma Scale: implications for practice. Crit Care Nurs Q. 2001 Feb;23(4):52-8. doi: 10.1097/00002727-200102000-00005. [PMID: 11852950] [DOI:...

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  16. Pantothenate Kinase-Associated Neurodegeneration (PKAN)https://cnke.org/articles/243

    hyperactivity, impulsivity, obsessive-compulsive disorder, vocal and motor tics, depression, and anxiety. A case described by Scarano et al. (2002) involved a patient who began stuttering at age 10 and developed an unsteady gait and frequent falls by...

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  17. Transcranial Magnetic Stimulation (TMS) in Autism Spectrum Disordershttps://cnke.org/articles/182

    magnetic field Induction of electric currents in underlying neural tissue Depth of penetration: Approximately 2-3 cm from the scalp Types: Single-pulse TMS Paired-pulse TMS Repetitive TMS (rTMS) Low-frequency (≤1 Hz): Generally inhibitory High-frequency...

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  18. Plagiocephaly in infantshttps://cnke.org/articles/282

    or more cranial sutures, leading to abnormal cranial and facial morphology. Clinical Types: Sagittal Synostosis: Results in scaphocephaly, characterized by a long, narrow skull. Coronal Synostosis: Leads to anterior plagiocephaly or brachycephaly,...

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  19. Lennox-Gastaut Syndrome (LGS)https://cnke.org/articles/247

    rare. Brain magnetic resonance imaging (MRI) is a crucial diagnostic tool for identifying the etiology of LGS. Modern 3-T MRI scanners and sequences can detect subtle abnormalities in patients with LGS, even when previous brain MRI scans were...

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  20. Infantile Spasms Syndromehttps://cnke.org/articles/269

    may trigger ISs. Observations indicate that some genes involved in ISs pathogenesis also play crucial roles in inflammatory cascades and signaling pathways [91]. Genetic Involvement: Lemke et al. [31]: Reported mutations in the GRIN2B gene in two...

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Results 1 - 20 of 54