week 23

    Cards (69)

    • What does ASD stand for in the context of neurodevelopmental disorders?
      Autism Spectrum Disorder
    • Which syndromes are included under ID?
      Down’s syndrome and non-syndromic ID
    • What does CD refer to in neurodevelopmental disorders?
      Focal cortical dysplasia
    • What is a common characteristic of all the mentioned disorders?
      They involve some degree of developmental delay
    • What imbalance is often associated with these disorders?
      Excitation/inhibition imbalance
    • What are some mechanisms identified in these disorders?
      Chromosomal abnormalities and gene deletions
    • What are the consequences of identified mechanisms in neurodevelopmental disorders?
      • Synaptic dysfunction
      • WNT-gene dysfunction (cell polarity)
      • Epigenetic dysfunctions
    • What does GWAS stand for?
      Genome-Wide Association Studies
    • What is the purpose of GWAS?
      To compare genomes for SNP patterns
    • What does NDD stand for?
      Neurodevelopmental Disorders
    • What are the impairments associated with autism?
      Social interaction and communication issues
    • What is the male to female ratio for autism?
      4:1 and 8:1 for high functioning
    • At what age can autism be detected?
      Before age 3
    • What role does neurexin play in synapses?
      Connects synapse properly for neurotransmitter levels
    • What are the impairments associated with Rett Syndrome?
      Hand skills and communication impairments
    • What is the genetic basis of Rett Syndrome?
      X-linked mutation in MeCP2 gene
    • When is Rett Syndrome typically detectable?
      At 6-18 months
    • What happens when MeCP2 is knocked out?
      It causes Rett Syndrome
    • What are the effects of deleting MeCP2?
      Motor deficits and seizures
    • What is the role of BDNF in Rett Syndrome?
      It rescues the phenotype
    • What are the impairments associated with Fragile X syndrome?
      IQ, verbal and motor delay
    • What genetic mutation is associated with Fragile X syndrome?
      CGG repeat in FMR-1 gene
    • How does extensive methylation affect FMRP expression?
      It prevents expression of FMRP
    • What are the characteristics of Autism Spectrum Disorders?
      • Impairments in social interaction
      • Communication difficulties
      • Restricted interests
      • Complex phenotype causing developmental delay or regression
    • What is known about genetic risk factors for Autism Spectrum Disorders?
      They are known but not fully understood
    • What are the impairments associated with Autism?
      Social interaction, communication, restricted interests
    • What does 'mind blindness' refer to in Autism?
      Difficulty in understanding others' perspectives
    • What is the male-to-female ratio for Autism?
      4:1 for general, 8:1 for high functioning
    • At what age can Autism be detected?
      Before age 3
    • What are the signs of Autism at 12 months?
      No response to name, no preference for objects
    • Who described Autism in 1943?
      Kanner
    • What are the signs of Autism at 18 months?
      No pointing, no focus on others' objects
    • What are the signs of Autism at age 3 and older?
      Language delay, echolalia, idiomatic speech
    • What is a common comorbidity with Autism?
      Seizures
    • Who described Rett Syndrome in 1954?
      Andreas Rett
    • What are the impairments associated with Rett Syndrome?
      Hand skills, communication, motor and mental retardation
    • Why is Rett Syndrome more prevalent in girls?
      It is X-linked
    • When is Rett Syndrome typically detectable?
      About 6-18 months
    • What characterizes the early development of Rett Syndrome?
      Normal early development followed by regression
    • What is a common symptom of Rett Syndrome?
      Loss of speech and hand-wringing
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