Developmental Disabilities Overview

Developmental Disabilities

• The term "developmental disabilities" (DD) is used in Ontario to describe certain conditions, but it is important to use it cautiously to avoid stigmatizing or marginalizing individuals.
• There are many terms that have been used in the past to describe DD, some more appropriate than others.
• DD can be caused by one or more health conditions, including syndromes and contributing factors.
• DD affects 2-3% of people worldwide, with 2/3rds experiencing mild to moderate cases and 1/3 experiencing severe to profound cases.
• The most common DD's in Canada are Autism, Fetal Alcohol Syndrome, Down Syndrome, Fragile X Syndrome, and 22q11 Deletion Syndrome.
• Approximately 25-50% of all developmental disabilities are caused by biomedical factors, most commonly genetic abnormalities.

Meaning of Developmental Disability

• Personal meaning: Focuses on an individual's unique strengths and needs.
• Literal meaning: Refers to the specific characteristics used to define the disability.
• Social meaning: Reflects society's tolerance, acceptance, and understanding of the disability, contributing to the broader social perception.
• Critical disability meaning: Highlights the limitations and shortcomings of the individual.
• Definitional meaning: Uses a very specific set of criteria to define the presence or absence of a DD.

AAIDD Defintion of Intellectual Disability

• Intellectual disability is characterized by significant limitations in both intellectual functioning and adaptive behavior, evident in conceptual, social, and practical skills.
• The disability must originate before the age of 18.
• Limitations in functioning should be assessed within the context of the individual's community, age, peers, and culture.
• Assessment should consider cultural and linguistic diversity and differences in communication, sensory, motor, and behavioral factors.
• Individuals with DD often possess strengths alongside their limitations.
• The purpose of describing limitations is to identify the necessary support needed for individuals with DD.
• With personalized support over time, individuals generally show improvement in their life functioning.

Diagnosing Developmental Disability

• Several diagnostic tools are used to assess DD, including:
  • DSM-5 (Diagnostic and Statistical Manual of Mental Disorders, 5th edition)
  • ICD-11 (International Classification of Diseases, 11th Revision)
  • The Education Act (Ontario)
  • ICF-CY (International Classification of Functioning, Children & Youth)
  • ABAS-3 (Adaptive Behaviour Assessment System Third Edition)
  • Vineland-3 (Adaptive behaviour assessment)

DSM-5 Classification of Intellectual Disability

• DSM-5 defines intellectual disability as a disorder present during the developmental period marked by deficits in intellectual and adaptive functioning.
• Three criteria must be met:
  • Deficits in intellectual functions, confirmed by clinical assessment and standardized intelligence testing.
  • Deficits in adaptive functioning, resulting in problems meeting personal independence and social responsibility standards.
  • Onset of intellectual and adaptive deficits during the developmental period.

Specifiers for Intellectual Disability in DSM-5

• Specifiers, such as age of onset, severity ratings, medical conditions, genetic conditions, or environmental factors, provide a detailed clinical description.
• Severity levels include Mild, Moderate, Severe, and Profound.

Education Act (Ontario) and Exceptionalities

• The Education Act (Ontario) designates students as "exceptional" within five categories: Behaviour, Communication, Intellectual, Physical, and Multiple.
• These designations are legal definitions and may not be equivalent to clinical diagnoses.
• The Identification, Placement and Review Committee (IPRC) process, governed by Regulation 181/98, determines whether a student is exceptional.

Severity Levels of Intellectual Disability

• Mild (85%): Typically not identified until early elementary years, may overrepresent minority groups, develop social and communication skills, and live successfully in the community with support.
• Moderate (10%): Often identified during preschool years, many individuals with Down syndrome fall into this category, benefit from vocational training, and can perform supervised work in adulthood.
• Severe (3-4%): Often associated with organic causes, identified at a young age, delays in development and visible physical features are present, require special assistance throughout their lives, and often live in group homes or with their families.
• Profound (1-2%): Identified in infancy due to significant developmental delays and biological anomalies, learn only basic communication skills, require intensive training, and need lifelong care and assistance.

Understanding Developmental Disabilities

• Evolving Perspectives: Previously, developmental disabilities were categorized based on intellectual abilities, communication, and behavior. Now, there's a shift towards a more nuanced understanding.
• Three Perspectives:
  • Legal Status: Individuals with disabilities often had to relinquish certain rights and privileges to access services, resulting in a different legal status.
  • Biomedical: Focuses on providing institutional care, following strict rules and regulations. Often deficit-driven.
  • Social and Human Rights Model: Examines the impact of social structures on individuals with disabilities, advocating for equality.

Developmental Disabilities in Ontario

• Legislative Changes: The Services and Supports to Promote the Social Inclusion of Persons with Developmental Disabilities Act, 2008 replaced the Developmental Services Act.
• New Definition: Emphasizes functional limitations in cognitive and adaptive functioning beyond IQ. Focuses on life-long impact and affecting areas of major life activity.
• Person-Centered Approach:
  • Encourages personalized planning with individuals expressing their specific needs and goals.
  • Aim is to promote independence and participation in community activities.
• Direct Funding: Allows individuals and families more choice and flexibility in accessing services.

Disability Rights in Canada

• Canadian Charter of Rights and Freedoms: Safeguards equality for all Canadians, regardless of disability, race, religion, sex, or age.
• Canadian Human Rights Act (1977): Protects against discrimination based on disability in employment and services provided by the federal government, First Nations governments, and certain private businesses.

Comorbidity: Mental Health and Developmental Disabilities

• Dual Diagnosis: Refers to the presence of both a developmental disability and a mental health disorder.
• Common Mental Health Disorders: Individuals with developmental disabilities experience a similar range of mental disorders as the general population, including mood disorders, anxiety, adjustment problems, personality disorders, and ADHD.
• Behavioral Challenges: Individuals with co-occurring conditions often exhibit behavioral challenges like aggression, self-harm, attention difficulties, and oppositional behaviors.
• Higher Prevalence of Autism: Individuals with developmental disabilities are more likely to have Autism Spectrum Disorder.
• Dual Diagnosis Consultation, Outreach Stabilization Service: This service in Windsor-Essex provides short-term stabilization for individuals 16+ with developmental disabilities and mental health disorders.

Factors Contributing to Mental Health Concerns

• Biological Factors: Brain injury, trauma, disease, or infection.
• Environmental and Psychosocial Factors: Poverty, isolation, lack of employment, limited social opportunities, weak social support, inadequate coping skills, and feelings of inadequacy.

Epidemiological Considerations

• Prevalence Rate: Research shows a higher risk of mental illness in the developmental disabilities population. Estimates suggest between 10% and 40% of adults with developmental disabilities experience mental health concerns.

Clinical Challenges

• Diagnostic Overshadowing: Tendency to under-recognize emotional or psychiatric disturbances in individuals with developmental disabilities.
• Behavioral Highlighting: Severe behavior may overshadow underlying mental health concerns.
• Communication Difficulties: Individuals with significant communication and cognitive impairments may struggle to express their distress.

Co-morbidity Beyond Mental Illness

• Individuals with developmental disabilities often face physical health issues, such as vision and hearing impairments.

Assessment in Developmental Disabilities

• Individuals with developmental disabilities are often overmedicated and undertreated due to caregivers' unfamiliarity with the nature of the disability.
• Caregivers may overlook or misinterpret certain concerns, such as withdrawn behavior or loss of interests, which could indicate depression.
• Professionals and paraprofessionals need specific training to understand the unique needs of this population.
• The Scientific Problem-Solving Model of Psychological Assessment involves six steps: problem clarification, planning, development, implementation, evaluation, and dissemination.
• Assessment in developmental disabilities aims to:
  • Identify strengths and needs
  • Determine appropriate interventions and services
  • Determine if an individual is experiencing a developmental disability or another condition
• The assessment process is complex, involving multiple professionals and extending over a prolonged period.
• Evidence-based strategies and interventions are recommended based on professional standards.
• Assessment may involve individuals and groups.
• Information gathered during assessment can include:
  • Health history
  • Social history
  • Characteristics
  • Skills
  • Knowledge and/or behavior
  • Environmental factors
• Assessment is crucial for:
  • Identifying and implementing supports for learning, physical health, and mental health
  • Improving an individual's daily functioning
• Reasons for individual assessments can include:
  • Identifying strengths and needs for educators
  • Identifying signs and symptoms of depression, potential causes, and available supports
  • Ongoing assessment for continuous support

Integrating Quality of Life in Assessment & Intervention

• Integrating quality of life concepts requires:
  • Examining the individual's life experiences and environment
  • Focusing on personal domains (family, friends, accommodations, work, leisure) and environmental domains (community resources, public safety)
• Priorities for action should be established:
  • Basic necessities
  • Satisfaction with important aspects of life
  • Achieving fulfillment and meaning
• Initial appraisal involves:
  • Determining individual strengths and needs
  • Identifying the individual's wishes
  • Determining the timeframe for assessment and intervention (short/long term, immediate/distant)
• Assessment methods should be:
  • Objective
  • Standardized
  • Incorporate personal perceptions from the individual and others
  • Align with the individual's values and priorities
  • Shape information towards the individual's goals
• Consider two key aspects:
  • Holism: Life is often viewed in parts but operates as an integrated whole.
  • Change over time: Acknowledge the dynamic nature of life experiences.

Five Essential Assessment Actions

• Attend to a situation or problem that has come to attention.
• Gather information about the situation or problem.
• Analyze strengths and needs.
• Understand factors that help or hinder improvement.
• Develop and implement plans to enhance positive factors and address hindering factors.

Formal Assessment Frameworks

• A formal assessment identifies needs and strengths in areas such as:
  • Intellectual functioning
  • Adaptive skills
  • Learning abilities and styles
  • Neurosensory functions
  • Speech and language skills
  • Health and medical conditions
  • Dental health
  • Nutrition
  • Neuropsychological issues
  • Life skills
  • Activities of daily living
  • Living environment
  • Available support

Diagnosis and the Regulated Health Professions Act (RHPA)

• The RHPA aims to:
  • Protect and serve the public interest
  • Create an open and accountable system of self-governance
  • Provide a modern framework for health professionals
  • Offer consumers freedom of choice
  • Improve quality of care
• Key features of the RHPA include:
  • Scope of practice for each profession
  • Controlled acts that require qualified practitioners
  • Health regulatory colleges to govern each profession
  • Health Professions Regulatory Advisory Council to advise the Minister of Health and Long-Term Care
  • Health Professions Appeal and Review Board for independent review of registration and complaint decisions.

Issues and Concerns in Making a Diagnosis

• Who is responsible for making the diagnosis?
• The reason for diagnosis must be understood.
• A formal diagnosis designates a specific term describing a condition.
• Diagnosis can be helpful in understanding an individual's needs and accessing resources, supports, and services.
• Overuse of diagnosis and associated clinical issues should be considered.
• Flexibility is allowed, especially in the DSM-5.
• Diagnoses are often considered permanent.

Challenges in Determining Disability

• Policies for diagnosing disabilities are inconsistent.
• Services require different aspects of the disability for eligibility.

Assessment & Treatment Formulation

• Assessment requires examining various factors including: identification of concerns, history of the concerns, client background information, supports background information, client examination, and support systems.
• A good assessment should identify strengths and needs within the system.
• Treatment focuses on reducing risk, decreasing organic contributions, decreasing stress, increasing competence, and a coordinated systems approach.

Adaptive Behaviour Assessments

• ABAS-3 assesses adaptive skills, including: communication, community use, functional academics, home/school living, health and safety, leisure, self-care, self-direction, and social.
• ABAS-3 results in scaled scores that range from Superior to Extremely Low.
• Vineland-3 is similar to ABAS-3 but also includes interview, parent/caregiver, and teacher forms.

Treatment Principles

• Treatment aims to maintain and improve life for those with disabilities.
• Effective intervention should: address specific needs, set clear and achievable objectives, be based on sound rationale, use methods agreeable to the individual, ensure smooth transitions, and follow up, if needed.

Types of Intervention

• Therapy types include active focused therapies, age-related therapies (IBI, ABA), communication, education & training, health & medication, lifestyle & personal support, and personal & skill development.

Intervention Specifics

• Strategies include: addressing sensory impairments, treating seizures, managing medical disorders, providing appropriate environments and expectations, increasing coping skills, communication skills, self-esteem, social support, and a coordinated systems approach with continuity of care.

Case Study: Michelle

• Michelle exhibited self-injurious behaviour (SIB) from a young age.
• Despite various interventions, her SIB persisted.
• Michelle was treated with high doses of antipsychotics and other psychotropics with limited success.
• A multidisciplinary assessment revealed a need for a coordinated system approach involving various local services.
• Regular meetings between care partners ensured continuity of care and minimized crises.
• Medication adjustments ultimately led to improvements in Michelle's quality of life and reduced SIB.

Key Points

• SIB arises from various circumstances and requires a stable and continuous setting for adequate assessment.
• A multidisciplinary assessment approach is critical.
• Antipsychotic medication prescription for challenging behaviours is no longer acceptable practice.

Psychological Assessment

• Is a system and problem-oriented process that is dynamic and conceptual.
• It consists of problem clarification, planning, development, implementation, outcome determination, and dissemination.

Psychological Testing

• A set of skills, tactics, and strategies used in the assessment process.

Percentile Scores

• Rank-order scores that indicate a person's score relative to scores of others in the same age group who took the test.
• Range from less than 1 to greater than 99.
• A score of 40 indicates that the person scored better than 40% of test-takers but lower than the remaining 60%.
• The average range is considered between the 25th and 74th percentiles.

Normal Distribution or Bell Curve

• Represents the distribution of intelligence in the population.
• The average range for IQ standard scores is 90-110, with 8-12 representing the average range for scaled scores on subtests.

Types of Validity

• Content Validity: Ensures a test adequately samples relevant aspects of the construct being measured.
• Criterion-Related Validity: Scores are shown to be related to specified external criteria, like performance on another measure or group membership.
• Construct Validity: Confirms that the test actually measures the construct it claims to assess.

Causes of Intellectual Disability

• Obvious Physical Damage: Includes Down Syndrome, disease, teratogens, prenatal malnourishment, and injury.
• No Obvious Signs of Brain Damage: A combination of genetic and environmental factors can contribute to intellectual disability.
• Environmental Factors: Low parental IQ and a disorganized, deprived home environment.

Conception and Genetics

• Conception marks the beginning of human development.
• A sperm fertilizes an ovum (egg cell) in the fallopian tube after the sperm travels through the vagina, cervix, and uterus.
• Both sperm and ovum have 23 single chromosomes, and during fertilization, their chromosomes combine to form 46 chromosomes (23 pairs) in the zygote.
• The Zygotic period, also known as the Germinal period.
  • The fertilized egg cell, called a zygote.
  • Cell division and differentiation into many cell types.
  • Pluripotent stem cells, which develop into various cell types.
• The Embryonic period (Week 2-8 of pregnancy)
  • Major organ systems develop.
• The Fetal period (End of Week 8 until birth)
  • Physical growth and maturation of organs.

Genetic Principles

• Chromosomes are thread-like structures carrying genetic material (DNA).
• DNA is a double helix structure that consists of genes, which hold instructions for various functions.
• Humans have 23 pairs of chromosomes, including sex chromosomes (X and Y).
• Mitosis: Normal cell division, resulting in two identical daughter cells with a full set of 46 chromosomes.
• Meiosis: Cell division specific to gametes (sperm and ova), with only half the number of chromosomes (23).
• Alleles: Alternative forms of a gene.
• Human Genome Project: Sequenced the entire human genome, including chromosome #20.

Genetic Inheritance

• Homozygous Pair: Two identical alleles for a specific gene, which can be dominant or recessive.
• Heterozygous Pair: Two different alleles for a specific gene, which can result in dominant or recessive expression.
• Phenotype: Observable characteristics of an individual.
• Genotype: Genetic blueprint, the combination of alleles inherited.
• Dominant-recessive pattern: A dominant gene always expresses its trait, while a recessive gene only expresses its trait when two recessive alleles are present.

Inheritance Patterns

• Polygenic Inheritance: Multiple genes interact to influence a single trait.
  • Ex: Eye color and height, with variations due to multiple genes.
• Multifactorial Patterns: Both genes and environmental factors contribute to the expression of a trait.
• Genomic Imprinting: Some genes have specific biochemical marks during ovum and sperm development, influencing their expression.
  • Ex: Prader-Willi syndrome (from the mother) and Angelman syndrome (from the father), both caused by defects on chromosome 15.
• Mitochondrial Inheritance: Genes passed only from mother to child.

Twins

• Identical (Monozygotic) twins: Result from the splitting of a single fertilized ovum, leading to two genetically identical individuals.
• Fraternal (Dizygotic) twins: Result from two separate eggs fertilized by two different sperm, resulting in two individuals with different genetic makeups.

Prenatal Development Problems

• Autosomal Disorders: Caused by errors on non-sex chromosomes.

  • Phenylketonuria (PKU): Lack of enzyme needed to metabolize phenylalanine, a protein, leading to intellectual disability.
  • Sickle-cell anemia: Red blood cells are sickle-shaped, causing anemia and other complications.
  • Tay-Sachs disease: Fatal genetic disease causing nerve damage and death by age 3.
  • Huntington's disease: Neurological disorder with degeneration of brain ventricles, usually starting in adulthood.

• Sex-Linked Recessive Disorders: Carried on the X chromosome and more common in males.

  • Hemophilia: Bleeding disorder due to missing clotting factor.
  • Red-green colorblindness: Inability to distinguish certain colors.
  • Fragile X syndrome: Most common form of inherited intellectual disability, affecting mental development.
  • Turner syndrome (XO): In females, characterized by short stature, heart problems, and cognitive delays.
  • Klinefelter syndrome (XXY): In males, characterized by underdeveloped testes, low sperm count, and language/learning difficulties.
  • Triple X syndrome (XXX): In females, characterized by slow development, poor verbal skills, lower intelligence.
  • XYY syndrome: In males, characterized by taller than average height, large teeth, and normal development.

Teratogens

• Environmental agents that disrupt embryonic and fetal development, causing birth defects.
  • Examples: Alcohol, tobacco, chemotherapy drugs, caffeine, cocaine, lead, mercury, radiation, prescription drugs, etc.
• Factors influencing teratogenicity:
  • Embryonic and fetal age (most vulnerable in early stages)
  • Dosage and duration of exposure.
  • Genetic susceptibility of the fetus and mother.

Specific Genetic Disorders

• Down syndrome (Trisomy 21): Caused by an extra copy of chromosome 21, it's the most common genetic cause of intellectual disability.
  • Distinctive facial features, physical abnormalities, heart problems, increased risk of seizures and Alzheimer's disease.
• Prader-Willi and Angelman syndromes: Both caused by defects on chromosome 15, but exhibit different symptoms depending on parental origin.

Genetic Factors in Mental Health Disorders

• Genetic components: Research indicates genetic links to psychiatric disorders.
• Higher proportion in individuals with developmental disabilities: Autism Spectrum Disorder (ASD) is an example.
• Environmental factors: Multiple births, older fathers, exposure to medications or infections during pregnancy, neurotoxins.
• Vaccination and autism: No causal link supported by scientific evidence.

Inherited Genetic Metabolic Disorders

• Defects in genes controlling metabolism: Affecting amino acids, sugars, carbohydrates, and nucleotides.
• Examples: Prader-Willi and Angelman syndromes.

Fragile X Syndrome

• Fragile X Syndrome is the most commonly inherited form of developmental and intellectual disability.
• Caused by a mutation in the FMR1 gene on the X chromosome.
• Occurs across all cultures, not related to mother's age at conception.

FMR1 Gene Mutation

• The mutation involves an expansion of CGG repeats in the promoter region of the FMR1 gene.
• Normal: 6-40 repeats
• Premutation: 55-200 repeats (may cause FXPOI and FXTAS but not IDD)
• Full mutation: 200+ repeats (gene may not work at all, often causes Fragile X Syndrome)
• The size of the mutation affects the severity of symptoms.

Symptoms of Fragile X Syndrome

• Intellectual & Learning:
  • Wide range of intellectual functioning, from mild learning disorders to severe IDD.
  • May experience delays in speech, language acquisition, short-term memory, and spatial awareness.
  • Difficulty with attention, hyperactivity, and anxiety.
• Physical:
  • Often not noticeable in infancy but may develop with age.
  • Features include a narrow face, large head, large ears, flexible joints, flat feet, and prominent forehead.
• Behavioral, Social, & Emotional:
  • Often experience anxiety and trouble in new or unexpected situations.
  • May have difficulty with eye contact, social interaction, and attention.
  • May display aggression, shyness, or autistic-like characteristics.
• Speech & Language:
  • Most boys experience speech and language difficulties, such as trouble speaking clearly, stuttering, or leaving out parts of words.
  • Girls usually have milder symptoms.
  • Some children with Fragile X may remain nonverbal throughout their lives.
• Sensory Sensitivity:
  • Many experience sensory issues like sensitivity to bright lights, loud noises, or certain textures.

Inheritance of Fragile X Syndrome

• Can be inherited from both mother and father who carry the mutated FMR1 gene.
• Males pass the mutated gene to all daughters but not sons.
• Females have a 50% chance of passing the mutated gene to both sons and daughters.
• Premutations can sometimes expand to full mutations during inheritance.

Diagnosis of Fragile X Syndrome

• Diagnosis typically involves a blood test to analyze the FMR1 gene.
• Prenatal testing (amniocentesis or chorionic villus sampling) can detect the mutated gene in the developing fetus.
• Average age of diagnosis for boys is 36 months and 42 months for girls.

Treatment of Fragile X Syndrome

• No single cure, but treatments aim to minimize symptoms.
• Early intervention is critical for optimal development.
• Key interventions include:
  • Educational support
  • Therapy services (occupational, physical, speech, and behavioral therapy)
  • Medications

Prevalence of Fragile X Syndrome

• 1 in 4,000 males and 1 in 8,000 females have Fragile X Syndrome.
• Fragile X premutations are more common, affecting 1 in 151 women and 1 in 468 men.

Explore the complexities of developmental disabilities, their definitions, and the impact they can have on individuals. This quiz will cover common conditions, causes, and the importance of appropriate terminology. Gain insights into the personal and literal meanings of developmental disabilities.