11.2 Flashcards
(10 cards)
- What are neurodevelopmental disorders?
They are a group of conditions affecting brain development and function, often characterized by delays or impairments in cognitive, motor, emotional, and social milestones.
- What range of conditions falls under neurodevelopmental disorders?
They include autism spectrum disorder, ADHD, intellectual disability, communication disorders, global developmental delay, and motor disorders.
- How do genetic factors contribute to neurodevelopmental disorders?
They may arise from inherited or de novo mutations, including single base changes (e.g., MECP2 in Rett syndrome), trinucleotide repeat expansions (e.g., Fragile X), copy number variants, chromosomal rearrangements, or aneuploidies (e.g., Down syndrome).
- What are common clinical symptoms of neurodevelopmental disorders?
Symptoms can include delayed or impaired speech, difficulty socializing, impaired motor skills, inattention, behavioral challenges, and seizures in some cases.
- What is key to the clinical management of neurodevelopmental disorders?
A multidisciplinary approach that integrates medications, behavioral therapies, speech, physical and occupational therapy, plus educational support and family involvement.
- How is precision medicine shaping future treatments for neurodevelopmental disorders?
Emerging approaches, such as gene therapy and antisense oligonucleotide therapy, allow targeted, individualized interventions based on a patient’s specific genetic profile and biomarkers.
- How does Rett syndrome exemplify a neurodevelopmental disorder?
Rett syndrome, mostly affecting girls, is caused by de novo mutations in the MECP2 gene and is characterized by normal early development followed by regression, loss of purposeful hand movements, and severe neurological impairments.
- What is the global impact of neurodevelopmental disorders?
They affect approximately 3% of children worldwide, representing a major health and societal challenge due to lifelong disability and complex care needs.
- Why is early diagnosis important in managing neurodevelopmental disorders?
Early identification—via clinical assessment and genetic testing—allows for timely, targeted interventions that can improve long-term developmental outcomes and quality of life.
- What emerging therapies are being explored for neurodevelopmental disorders?
Research is investigating gene therapies, antisense oligonucleotides, neurostimulation, and individualized, biomarker-driven treatment strategies to modify disease progression.
