Assuming developmental is required, and milestones is required, the following 15 results were found.
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Alexander Diseasehttps://cnke.org/articles/253
Alexander disease is a rare neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein, a type III intermediate filament protein expressed in astrocytes. Introduction Definition: Alexander disease is a progressive disorder of...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Infantile Spasms: Treatmenthttps://cnke.org/articles/256
(minimum 4–24 hours, including sleep cycle). Long-Term: Years of seizure freedom. Normal intellectual and developmental milestones. Absence of progression to other epilepsy syndromes. Limitations in Outcome Assessment: Hypsarrhythmia identification is...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Speech and Language developmental disordershttps://cnke.org/articles/243
Definition and Components of Language and Speech Language: A communication system acquired through use, involving symbols sequenced to share attention and ideas. Speech: One mechanism for expressing language, but other methods like gestures, sign...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Developmental Milestones (Birth to 8 Years)https://cnke.org/articles/166
peer relationships Language: Uses more complex sentences Engages in detailed storytelling Key Considerations Developmental milestones vary; delays in one domain may not indicate overall developmental issues. Early intervention is critical for any...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Developmental Milestoneshttps://cnke.org/topics/developmental-milestones
- Type: Tag
- Author: Editor CNKE
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Zika Virus Infectionhttps://cnke.org/articles/353
Zika virus is a mosquito-borne flavivirus primarily transmitted by Aedes aegypti mosquitoes (Hayes, 2009; CDC, 2016 ) and to a lesser extent by Aedes albopictus mosquitoes. Aedes aegypti and Aedes albopictus mosquitoes, found throughout much of the...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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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
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NGN-401https://cnke.org/articles/160
NGN-401, a novel gene therapy approach, aims to address the 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...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Circadian Rhythm Sleep-Wake Disorders (CRSWD)https://cnke.org/articles/164
Introduction to Circadian Rhythms Definition: Circadian rhythms represent intrinsic, near-24-hour cycles that orchestrate physiological, behavioral, and molecular processes across the human body. These rhythms are foundational to maintaining...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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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 CNKE
- Category: Articles
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The Normal EEG in Childrenhttps://cnke.org/articles/25
Introduction Paediatric EEG Normal Awake 3-12 months 14 months-2years 3-4 years 5-10 years 11-16 years Hyperventilation Normal Drowsiness, Sleep, Arousal Drowsy patterns Burst Drowsy Patterns V Waves Spindles V Waves and Spindles Positive Occipital...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Investigations of the baby with abnormal neurologyhttps://cnke.org/articles/317
Flat baby Further neurological investigations are indicated when the aetiology is not clearly asphyxia, trauma, infection or poisoning. Contributory causes include myotonic dystrophy and some congenital myopathies, glycine encephalopathy, mitochondrial...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Central Core Disease (CCD)https://cnke.org/articles/220
Overview Central Core Disease (CCD): A congenital myopathy characterized by central cores in muscle fibers on biopsy. Associated with mutations in the RYR1 gene, which encodes the skeletal muscle ryanodine receptor. Inheritance: Traditionally Autosomal...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Centronuclear Myopathies (CNMs)https://cnke.org/articles/centronuclear-myopathies-cnms
Overview Centronuclear myopathies (CNMs): A group of congenital myopathies characterized by centrally placed nuclei in muscle fibers on biopsy. Inheritance: X-linked recessive. Autosomal dominant. Autosomal recessive. Clinical Features: Generalized...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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Charcot–Marie–Tooth disease (CMT)https://cnke.org/articles/214
Charcot–Marie–Tooth disease (CMT) refers to a group of genetically heterogeneous disorders affecting peripheral nerve function. Charcot–Marie–Tooth disease (CMT) Definition: Charcot–Marie–Tooth disease (CMT) refers to a group of genetically...
- Type: Article
- Author: Editor CNKE
- Category: Articles