Wk 7 - Neurodevelopmental Disorders and Down Syndrome

Flashcards covering key vocabulary and concepts from the lecture on Neurodevelopmental Disorders.

Neurodevelopmental Disorders (NDDs)

Present in early life, involve deficits in cognition, behavior, attention, and social interaction, lifelong conditions, complex causes: genetic, environmental, and neurobiological factors.

Examples of Neurodevelopmental Disorders

ADHD, Autism Spectrum Disorder (ASD), Learning Disabilities, Intellectual Disabilities

Neurodevelopmental Disorders (NDDs)

Present in early life, involve deficits in cognition, behavior, attention, and social interaction, lifelong conditions, complex causes: genetic, environmental, and neurobiological factors.

Examples of Neurodevelopmental Disorders

ADHD, Autism Spectrum Disorder (ASD), Learning Disabilities, Intellectual Disabilities

Down Syndrome

Genetic and developmental condition with considerable overlap with intellectual disabilities and other forms of neurodevelopmental disorders.

Challenges in General Mental Abilities (Intellectual Disabilities)

Reasoning, problem-solving, planning, abstract thinking, making accurate judgments, and learning from experience.

Deficit in Intellectual Functioning (DSM-5 Criteria for ID)

Reasoning, problem-solving, planning, abstract thinking, judgment, academic learning, and learning from experience.

Deficit in Everyday Functioning (DSM-5 Criteria for ID)

Observable signs of behaviour impacting ability to meet age and culturally-appropriate expectations.

ID Spectrum (DSM-5)

Ranges from Mild to Profound.

The severity of ASD determined by

Level of social communication impairments, restricted, repetitive patterns of behaviours, functional capacity and dependency on others

ADHD Subtypes

Predominantly Inattentive, Combined Type, Predominantly Hyperactive-Impulsive

DSM-5 Criteria for ADHD

Symptoms must be great than 6 (in young people) or 5 (in adults); Present from a young age; Obvious across a number of settings; Impact social, occupational, and/or academic functioning; Cannot be better explained by another psychiatric condition.

Diagnosis of Down Syndrome (DS)

Prenatal screening (NIPT and ultrasound) and confirmatory diagnostic tests (chorionic villus sampling or amniocentesis) to detect an extra copy of chromosome 21.

Common Features of Down Syndrome

Flattened face, almond-shaped eyes, short neck, shorter stature, small hands and feet, low muscle tone

Genetic Factors that contribute to NDD risk

Genetic mutations; Family history; Structural changes in DNA e.g. duplications of deletions

Environmental Factors that contribute to NDD risk

Prenatal Exposures (in womb) e.g. exposure to alocohol, drugs or infections via mother; Perinatal Complications (during birth) e.g. premature, low birth weight; Postnatal exposures e.g., childhood illness and physical/psychological trauma; Maternal health e.g. gestational diabetes, geriatric pregnancy, obesity, some autoimmune disorders

Neurobiological Factors that contribute to NDD risk

Brain development abnormalities; Dysregulation of neurotransmitters (serotonin and dopamine); Structural brain abnormalities

Epigenetics Factors that contribute to NDD risk

Changes in gene expression patterns due to environmental influences.

Cause of Down Syndrome

An extra copy of chromosome 21 (trisomy 21).

Maternal age: a key risk factor

The mothers age appears to be one of the greatest predictors of Down Syndrome, with risk increasing as the mother’s pregnancy age increases.

Aims of Treatment for NDDs and Down Syndrome

Manage symptoms and secondary health complications, promote recovery through meaningful community participation, maximise wellbeing and quality of life.

Medications and Physical activity for NDDs and DS

Medications are not the first line of treatment, and non-pharmacological interventions, behavioural therapies, and educational support are often prioritised.

Congenital Heart Disease in Down Syndrome

Approximately half of all infants born with Down syndrome have a heart condition.

What helps Physical Activity of People Living with NDD and Down Syndrome

Inclusive environments, personalized programs, involving family and carers

Benefits of PA in iD

Motor skills, cognitive function, weight managements and metabolic health, improve quality of life, reduce sedentary behaviour

Physical activity and ASD Compared to those without ASD young people with ASD:

↓ MVPA, ↓ Sleep duration and efficiency, ↑ Sleep latency

Top 3 evidence- based practices for exercise programming in autism

Visual supports, video modelling for quick exercise skill acquisition, reinforcement for success

Communication Strategies in Exercise Physiology

Use keywords and directives, key word sign ,Be consistent with language, Mindful of language and jargon, Visual aids, Check for understanding, Patients and flexibility

ESSA Pre-Exercise Screening Systems

Tool used can be challenging to accurately self-report, especially in the presence of cognitive challenges and issues with memory and retention

Considerations for selecting exercise assessments:

Cognitive capacity and attention span, comorbid health conditions, lower cardiovascular fitness, reduced strength and functional capacity, sensory sensitivities, behavioural challenges, individual goals, motivations and preferences ,level of comfort and familiarity with instructor, exercises and equipment ,safety to perform movements and use equipment ,ligament laxity, joint hypermobility and movement restrictions

Important considerations in exercise testing for DS

Population specific formular has been developed for DS, which should be utilised during exercise testing

Subjective Assessments Practice Tips

During consultations, pre-exercise screening, or assessments that rely on self-reporting with individuals with intellectual or cognitive limitations, it's essential to maintain inclusive communication.

Make it fun!

Gamifying physical activity can be an effective strategy to maximise engagement.

Light Intensity Talk Test

Talk comfortably and sing comfortably

Moderate Intensity Talk Test

Talk comfortably but not sing

Vigorous to High Intensity Talk Test

Neither talk nor sing comfortably

Adaptive Behavior Deficits in ID

Impairments in conceptual, social, and practical skills.

Conceptual Skills

Academic skills like reading, writing, and math.

Social Skills

Interpersonal communication, empathy, and social judgment.

Practical Skills

Self-management, job responsibilities, money management, recreation, and self-care.

Prevalence of Down Syndrome

Approximately 1 in every 700 to 1,000 live births.

Life Expectancy of Individuals with Down Syndrome

Increased significantly over the past few decades, now reaching an average of 60 years or more with proper care and management.

Co-occurring Conditions in Down Syndrome

Atlantoaxial instability, thyroid dysfunction, hearing and vision impairments, mental health issues, and sleep disorders.

Diagnostic Criteria for ASD

Persistent deficits in social communication and social interaction across multiple contexts and restricted, repetitive patterns of behavior, interests, or activities.

Sensory Sensitivities in ASD

Unusual responses to sensory input, such as light, sound, touch, taste, or smell.

Executive Functioning Deficits in ADHD

Difficulties with planning, organization, working memory, and impulse control.

Comorbidity in ADHD

Anxiety disorders, mood disorders, learning disabilities, and oppositional defiant disorder (ODD).

Benefits of Early Intervention for NDDs

Improved developmental outcomes, enhanced adaptive functioning, and reduced need for long-term support.