Developmental Disabilities Overview
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Questions and Answers

What is a key concern regarding the use of the term 'developmental disabilities'?

  • It has no historical usage.
  • It can lead to stigmatization and marginalization. (correct)
  • It is only used in Ontario.
  • It is universally accepted.

    • What percentage of people worldwide are affected by developmental disabilities?

  • 4-5%
  • 2-3% (correct)
  • 15-20%
  • 1-2%

    • Which condition is NOT listed among the most common disabilities in Canada?

  • Attention Deficit Hyperactivity Disorder (ADHD) (correct)
  • Fetal alcohol syndrome
  • Down syndrome
  • Autism

    • What is the approximate percentage of developmental disabilities attributed to biomedical causes?

    <p>25-50%</p> Signup and view all the answers

    What is the critical disability meaning focused upon according to the provided content?

    <p>Limitations and shortcomings</p> Signup and view all the answers

    Which of the following describes 'social meaning' in the context of developmental disabilities?

    <p>Broader societal perception and understanding.</p> Signup and view all the answers

    According to the AAIDD definition, what is a key characteristic of intellectual disability?

    <p>It involves significant limitations in both intellectual functioning and adaptive behavior.</p> Signup and view all the answers

    How are the terms used to describe developmental disabilities viewed in terms of their appropriateness?

    <p>Some terms are outdated and preferred alternatives exist.</p> Signup and view all the answers

    What is a key factor considered in assessing limitations in individuals with intellectual disabilities?

    <p>Community environments typical of the individual’s age and culture</p> Signup and view all the answers

    Which of the following is NOT one of the criteria for diagnosing intellectual disability?

    <p>Onset during the childhood period</p> Signup and view all the answers

    What percentage of persons with intellectual disabilities are typically classified as having a mild severity level?

    <p>Approximately 85%</p> Signup and view all the answers

    Which diagnostic tool is primarily focused on assessing adaptive behavior?

    <p>ABAS-3</p> Signup and view all the answers

    How is an exceptional student identified according to the Education Act (Ontario)?

    <p>Via the Identification, Placement and Review Committee (IPRC) process</p> Signup and view all the answers

    What is the main purpose of describing limitations in individuals with intellectual disabilities?

    <p>To develop a profile of needed supports</p> Signup and view all the answers

    Which severity level of intellectual disability is most likely to require lifelong care and assistance?

    <p>Profound</p> Signup and view all the answers

    Which of the following is a common misconception about the identifications of exceptionalities?

    <p>They represent clinical diagnoses</p> Signup and view all the answers

    At what age are individuals with moderate intellectual disability typically identified?

    <p>During preschool years</p> Signup and view all the answers

    Which of the following specifiers can be used in neurodevelopmental disorder diagnoses?

    <p>Medical, genetic, or environmental factors</p> Signup and view all the answers

    Which domain of adaptive functioning does NOT need to be impaired to meet the criteria for adaptive deficits?

    <p>Cognitive</p> Signup and view all the answers

    What is the anticipated outcome for individuals with intellectual disabilities when provided with appropriate supports?

    <p>Improvement in life functioning over time</p> Signup and view all the answers

    Which of the following best describes the adaptive functioning criteria in diagnosing intellectual disability?

    <p>At least one domain must show significant impairment</p> Signup and view all the answers

    What principle ensures that the classification of functioning and disability applies to all individuals, regardless of their health condition?

    <p>Universality</p> Signup and view all the answers

    Which component of the International Classification of Functioning pertains to the anatomical parts of the body?

    <p>Body Structures</p> Signup and view all the answers

    What does the 'activity' component refer to in the context of the ICF?

    <p>The execution of a task or action by an individual</p> Signup and view all the answers

    Which factor is included in the ICF to complete the social model of disability?

    <p>Environmental factors</p> Signup and view all the answers

    Which of the following describes 'impairments' in the context of ICF?

    <p>Problems in body function or structure</p> Signup and view all the answers

    What is the significance of 'neutrality' as a principle in the ICF?

    <p>Avoiding distinctions between health conditions</p> Signup and view all the answers

    Which aspect of the ICF focuses on complications faced by individuals in carrying out activities?

    <p>Activity Limitations</p> Signup and view all the answers

    How does the ICF model describe the interplay between health conditions and contextual factors?

    <p>As a complex, bi-directional interaction</p> Signup and view all the answers

    What is the primary purpose of the ICF-CY?

    <p>To document health and functioning characteristics in children and youth</p> Signup and view all the answers

    Which of the following is NOT included in the categories for body functions qualifiers?

    <p>INTERMITTENT impairment</p> Signup and view all the answers

    What defines neurodevelopmental disorders according to the content?

    <p>Disorders arising during the developmental period with cognitive and behavioral deficits</p> Signup and view all the answers

    Which group of conditions requires clinical judgment based on behavioral indicators for diagnosis due to lack of standardized tests?

    <p>Disorders of intellectual development</p> Signup and view all the answers

    What is a common consequence of using disability terms as mentioned?

    <p>May lead to isolating individuals</p> Signup and view all the answers

    Which of the following statements describes one of the functions of the ICD-11?

    <p>It serves as a standard for diagnosing behavioral and neurodevelopmental disorders.</p> Signup and view all the answers

    What is one of the pros of using disability terms?

    <p>They assist in identifying people with special needs.</p> Signup and view all the answers

    How is an individual characterized as having a disorder of intellectual development?

    <p>Through assessments showing a significant score below the mean</p> Signup and view all the answers

    What is the expected outcome for individuals with intellectual disabilities when provided with appropriate support?

    <p>Enhanced independence and capacity for functioning</p> Signup and view all the answers

    What is a primary characteristic of the social and human rights model of developmental disabilities?

    <p>It emphasizes community inclusion and societal context.</p> Signup and view all the answers

    Which of the following is NOT a criterion for defining a developmental disability according to the 2011 Service Ontario definition?

    <p>Purely based on IQ scores.</p> Signup and view all the answers

    How does the biomedical view primarily understand developmental disabilities?

    <p>Through rules and regulations affecting care.</p> Signup and view all the answers

    What major change did the Services and Supports to Promote the Social Inclusion of Persons with Developmental Disabilities Act, 2008, implement?

    <p>It replaced the Developmental Services Act.</p> Signup and view all the answers

    Which perspective of developmental disabilities is known to involve a legal status that may limit rights and privileges?

    <p>Legal Status Perspective</p> Signup and view all the answers

    In the context of developmental disabilities, what does the term 'worthiness of power' refer to?

    <p>The rights presumed to be given up to access services.</p> Signup and view all the answers

    Which factor is considered key in the changing context of developmental disabilities in Ontario?

    <p>The increasing emphasis on community living and inclusion.</p> Signup and view all the answers

    What aspect does the new definition of developmental disability focus on beyond cognitive functioning?

    <p>The individual's independence relative to peers.</p> Signup and view all the answers

    What are some biological factors that can contribute to mental health concerns?

    <p>Brain injury, trauma, disease or infection</p> Signup and view all the answers

    Which of the following best summarizes the problem of 'diagnostic overshadowing'?

    <p>Misinterpreting psychiatric signs as part of a developmental disability</p> Signup and view all the answers

    What percentage range indicates the prevalence of mental health conditions in the developmental disabilities (DD) population?

    <p>10% to 40%</p> Signup and view all the answers

    Which group is identified as being more susceptible to specific mental health disorders?

    <p>Individuals diagnosed with Autism Spectrum Disorder</p> Signup and view all the answers

    What is a significant change in the definition of developmental disabilities according to the legislation?

    <p>It includes mild forms of Autism Spectrum Disorder.</p> Signup and view all the answers

    What challenge is associated with detecting health concerns in individuals with severe communication barriers?

    <p>Problematic behaviors overshadow the distress signals</p> Signup and view all the answers

    What is a significant environmental factor that impacts mental health?

    <p>Impoverished and isolated circumstances</p> Signup and view all the answers

    Which aspect of the new legislation aims to enhance individual autonomy?

    <p>Direct funding options allowing families to choose their support services.</p> Signup and view all the answers

    Which term describes the phenomenon of noticing severe behavioral problems that hinder the detection of underlying health issues?

    <p>Behavioral highlighting</p> Signup and view all the answers

    What does the Canadian Charter of Rights and Freedoms guarantee regarding disabilities?

    <p>It ensures equality regardless of physical or mental disability.</p> Signup and view all the answers

    Under the Canadian Human Rights Act, individuals can file complaints based on how many grounds of discrimination?

    <p>11</p> Signup and view all the answers

    What percentage of the developmental disabilities population is estimated to experience a mental health issue?

    <p>85,000 out of 227,000</p> Signup and view all the answers

    What is meant by 'dual diagnosis' in the context of developmental disabilities?

    <p>A diagnosis of both a developmental disability and a mental health disorder.</p> Signup and view all the answers

    What type of program is offered through the Dual Diagnosis Consultation, Outreach Stabilization Service?

    <p>An outpatient program for individuals with an intellectual disability and a mental health disorder.</p> Signup and view all the answers

    Which of the following best describes the accountability measures in the new legislation?

    <p>They ensure public money is used efficiently and effectively.</p> Signup and view all the answers

    What is a key goal of applying person-directed planning for individuals with developmental disabilities?

    <p>To create life plans tailored to distinct needs and goals.</p> Signup and view all the answers

    Which statement accurately reflects the legislative changes regarding services and supports?

    <p>Services provide many forms of assistance, enhancing choice.</p> Signup and view all the answers

    Which of these describes a common misconception about individuals with developmental disabilities?

    <p>They do not require any support in daily activities.</p> Signup and view all the answers

    What part of the Canadian Charter of Rights and Freedoms addresses discrimination?

    <p>Section 15</p> Signup and view all the answers

    Which of the following is NOT one of the 11 grounds of discrimination outlined in the Canadian Human Rights Act?

    <p>Gender identity</p> Signup and view all the answers

    What is the primary reason individuals with developmental disabilities may be viewed as 'overmedicated' and 'undertreated'?

    <p>Caregivers may lack awareness of specific disabilities.</p> Signup and view all the answers

    What is the first step in the assessment process for developmental disabilities?

    <p>Determining the presence of a developmental disability</p> Signup and view all the answers

    Which component is NOT one of the six steps involved in the scientific problem-solving model of psychological assessment?

    <p>Communication</p> Signup and view all the answers

    Why is specific training for professionals and paraprofessionals crucial in the context of developmental disabilities?

    <p>To accurately identify and address specialized needs.</p> Signup and view all the answers

    What role does assessment play in the context of developmental disabilities?

    <p>To investigate and document strengths and needs for appropriate interventions.</p> Signup and view all the answers

    What might be a common oversight by caregivers when observing behavior in individuals with developmental disabilities?

    <p>Failing to perceive loss of interest as a potential concern.</p> Signup and view all the answers

    Which of the following is a significant aspect of the assessment process for individuals with developmental disabilities?

    <p>It often requires collaboration among multiple professionals and an extended timeframe.</p> Signup and view all the answers

    What is one of the expected outcomes when appropriate supports are provided to individuals with intellectual disabilities?

    <p>Improvement in quality of life and independence.</p> Signup and view all the answers

    Which of the following is NOT included as a reason for conducting an assessment?

    <p>To understand developmental milestones</p> Signup and view all the answers

    Which step is crucial when carrying out an initial appraisal during an assessment?

    <p>Determine individual strengths and needs</p> Signup and view all the answers

    Which of the following areas is essential for formal assessments according to the framework for assessment?

    <p>Adaptive skills</p> Signup and view all the answers

    What does the term 'holism' refer to in the context of assessment?

    <p>Looking at the person as an integrated whole</p> Signup and view all the answers

    Which aspect is NOT a part of the five basic assessment actions?

    <p>Identify potential diagnoses</p> Signup and view all the answers

    What is one of the key challenges in making a diagnosis according to the content?

    <p>The lack of standard tests available for all conditions</p> Signup and view all the answers

    Which feature describes how the RHPA aims to serve the public interest?

    <p>By providing a more open and accountable healthcare system</p> Signup and view all the answers

    What is one critical area where individual assessments may be conducted on an ongoing basis?

    <p>Health and mental health supports</p> Signup and view all the answers

    What does a formal diagnosis represent in the context of disabilities?

    <p>A specific term identifying a condition in a person</p> Signup and view all the answers

    Which of the following is a component of the assessment framework that assesses life skills?

    <p>Activities of daily living</p> Signup and view all the answers

    Which priority should be addressed first when shaping action from assessment findings?

    <p>Basic necessities</p> Signup and view all the answers

    What is typically a key responsibility of health regulatory colleges under the RHPA?

    <p>Governing practice and ensuring practitioner accountability</p> Signup and view all the answers

    Why is caution warranted in the application of clinical diagnosis?

    <p>Due to the potential for overuse of the term</p> Signup and view all the answers

    In the context of assessment, what role do environmental factors play?

    <p>They contribute to identifying group needs</p> Signup and view all the answers

    What is a primary focus when conducting a valid and reliable assessment for disabilities?

    <p>Understanding the various criteria used for diagnosis</p> Signup and view all the answers

    Which component is necessary for the formulation of treatment?

    <p>Identifying the specific strengths and needs of the individual</p> Signup and view all the answers

    Which factor must be included when gathering background information about a client?

    <p>Past and current communication skills</p> Signup and view all the answers

    What is one of the short-term goals in treatment for disabilities?

    <p>Addressing immediate behavioral concerns</p> Signup and view all the answers

    What is critical in understanding the supports available in a client’s life?

    <p>Understanding how supports are structured and appropriateness</p> Signup and view all the answers

    Which of the following describes a component of the examination during the assessment process?

    <p>Conducting a physical examination and mental status interview</p> Signup and view all the answers

    Which area is NOT a focus when identifying the concerns of a client?

    <p>Understanding the client's immediate social circle</p> Signup and view all the answers

    Which of the following is an important long-term goal in treatment formulation?

    <p>Reducing the risk of recurrence of behavioral issues</p> Signup and view all the answers

    What is the primary purpose of the ABAS-3 assessment?

    <p>To evaluate adaptive skills across various areas</p> Signup and view all the answers

    Which of the following scales assesses skills needed for community functioning?

    <p>Community Use scale</p> Signup and view all the answers

    In the context of adaptive skills, what is assessed by the Health and Safety scale?

    <p>Skills needed for healthy living</p> Signup and view all the answers

    What type of information does the Vineland-3 parent or caregiver form gather?

    <p>Feedback on home and family life behaviors</p> Signup and view all the answers

    Which of the following is NOT a guideline for effective intervention?

    <p>Use methods that may not be agreeable to the person with disabilities</p> Signup and view all the answers

    Which scoring range indicates a 'Below Average' level on the ABAS-3?

    <p>55-60</p> Signup and view all the answers

    What is the role of the interview form in the Vineland-3 assessment?

    <p>To collect adaptive functioning information from parents or caregivers</p> Signup and view all the answers

    Which of the following areas does NOT fall under the adaptive skills assessed by ABAS-3?

    <p>Coping Strategies</p> Signup and view all the answers

    How does the ABAS-3 typically report scores in each adaptive skill area?

    <p>Using Scaled Scores</p> Signup and view all the answers

    What is one of the main benefits of the ABAS-3 assessment?

    <p>It helps develop treatment plans and training goals</p> Signup and view all the answers

    What does the term 'Self-Direction' in the ABAS-3 specifically assess?

    <p>Independence, responsibility, and self-control</p> Signup and view all the answers

    Which of the following best defines the intervention's purpose?

    <p>To improve the individual's life in some way</p> Signup and view all the answers

    Which scale in the ABAS-3 assesses skills associated with communication?

    <p>Communication scale</p> Signup and view all the answers

    Which intervention principle emphasizes the importance of practical rationale?

    <p>Objective setting</p> Signup and view all the answers

    What is a key focus in decreasing organic contributions to self-injurious behavior (SIB)?

    <p>Addressing sensory impairments</p> Signup and view all the answers

    Which approach is essential for coordinating care in treatment plans?

    <p>Implementing a multidisciplinary assessment</p> Signup and view all the answers

    Which intervention is noted as inappropriate for managing challenging behaviors?

    <p>Antipsychotic medication</p> Signup and view all the answers

    What aspect should be monitored when managing severe self-injurious behaviors?

    <p>Medication side effects</p> Signup and view all the answers

    What contributed to the stabilization of Michelle's behaviors during treatment?

    <p>Effective communication between care providers</p> Signup and view all the answers

    Why is continuity of care important in treatment recommendations?

    <p>To avoid unnecessary medication changes</p> Signup and view all the answers

    Which of the following is a component of increasing competence in individuals with severe behaviors?

    <p>Increasing coping skills</p> Signup and view all the answers

    What can be a result of excessive use of antipsychotic medications?

    <p>Development of medical complications</p> Signup and view all the answers

    Which factor is vital for the effectiveness of behavioral interventions for SIB?

    <p>Assessing individual specific contributions</p> Signup and view all the answers

    What role do caregivers play in managing behaviors associated with developmental disabilities?

    <p>They develop an understanding of developmental needs</p> Signup and view all the answers

    What was a key concern raised during Michelle's treatment regarding her medication?

    <p>Her medication was improperly adjusted</p> Signup and view all the answers

    Which aspect of an environment is vital for preventing behavioral escalations?

    <p>Supported and understanding environments</p> Signup and view all the answers

    What can result from proper management and intervention of SIB?

    <p>Improvements in quality of life</p> Signup and view all the answers

    What does a percentile score of 40 indicate about a person's performance compared to others?

    <p>They scored higher than 40% of test-takers.</p> Signup and view all the answers

    Which range is considered the average for IQ standard scores?

    <p>90-110</p> Signup and view all the answers

    Which type of validity ensures that a test adequately samples relevant aspects of the construct being measured?

    <p>Content Validity</p> Signup and view all the answers

    What is a common cause of intellectual disability linked to prenatal conditions?

    <p>Teratogens exposure</p> Signup and view all the answers

    Which percentile range is considered to fall within the average range for test scores?

    <p>25th to 74th percentiles</p> Signup and view all the answers

    Which condition is commonly associated with obvious physical damage in relation to intellectual disabilities?

    <p>Down Syndrome</p> Signup and view all the answers

    What is a characteristic of construct validity?

    <p>It assesses whether a test truly measures the concept it claims to measure.</p> Signup and view all the answers

    What percentage of the population is typically classified as having an average IQ score?

    <p>90-110%</p> Signup and view all the answers

    What describes the dominant-recessive pattern of gene expression?

    <p>Dominant genes always express their characteristics</p> Signup and view all the answers

    Which term refers to the observable characteristics of an individual?

    <p>Phenotype</p> Signup and view all the answers

    What is the role of meiosis in relation to gametes?

    <p>It reduces the chromosome number to 23 in gametes</p> Signup and view all the answers

    Which period of prenatal development follows the zygotic period?

    <p>Embryonic period</p> Signup and view all the answers

    What are the two types of chromosome pairs identified in humans?

    <p>Autosomal and sex chromosomes</p> Signup and view all the answers

    What is the primary outcome of the Human Genome Project related to genetics?

    <p>Mapping and understanding approximately 30,000 genes</p> Signup and view all the answers

    How many chromosomes does a zygote have after fertilization?

    <p>46 individual chromatids</p> Signup and view all the answers

    What is the difference between homozygous and heterozygous pairs?

    <p>Homozygous pairs contain identical alleles, while heterozygous pairs have different alleles.</p> Signup and view all the answers

    What is polygenic inheritance?

    <p>Many genes blend together to influence a single phenotype.</p> Signup and view all the answers

    What defines multifactorial patterns in genetics?

    <p>Expression of traits influenced by both genes and environment.</p> Signup and view all the answers

    What characterizes genomic imprinting?

    <p>The same gene has different effects depending on parental origin.</p> Signup and view all the answers

    What is a known effect of mitochondrial inheritance?

    <p>Only mothers can pass on defective genes to offspring.</p> Signup and view all the answers

    Which condition is caused by a recessive gene?

    <p>Tay-Sachs disease.</p> Signup and view all the answers

    What is associated with Trisomy 21?

    <p>Down syndrome.</p> Signup and view all the answers

    Which of the following disorders is sex-linked recessive?

    <p>Hemophilia.</p> Signup and view all the answers

    What is a characteristic feature of Klinefelter’s syndrome?

    <p>Underdeveloped testes and low sperm count.</p> Signup and view all the answers

    What is a teratogen?

    <p>A factor causing birth defects during embryonic development.</p> Signup and view all the answers

    Which factor does NOT influence teratogenicity?

    <p>The nationality of the child.</p> Signup and view all the answers

    Why are males more susceptible to specific genetic mutations?

    <p>Male sperm undergoes more cell divisions than female ova.</p> Signup and view all the answers

    What percentage of autism risk is attributed to environmental factors?

    <p>55%.</p> Signup and view all the answers

    What genetic disorder is characterized by a lack of phenylalanine metabolism?

    <p>Phenylketonuria (PKU).</p> Signup and view all the answers

    Which genetic disorder is particularly associated with an extra chromosome?

    <p>Down syndrome.</p> Signup and view all the answers

    What genetic alteration causes Fragile X syndrome?

    <p>An abnormal expansion of DNA in the FMR1 gene</p> Signup and view all the answers

    Which of the following is a symptom associated with Fragile X syndrome?

    <p>Sensitivity to sensory information</p> Signup and view all the answers

    What is the usual range of CGG repeats in a normal FMR1 gene?

    <p>6 to 40 repeats</p> Signup and view all the answers

    What protein is affected by the mutation in the FMR1 gene?

    <p>Fragile X Mental Retardation Protein (FMRP)</p> Signup and view all the answers

    Which statement about the inheritance of Fragile X syndrome is true?

    <p>It can occur across all cultures and is not related to maternal age.</p> Signup and view all the answers

    What is the accuracy rate of the DNA test for Fragile X syndrome?

    <p>99%</p> Signup and view all the answers

    Which associated condition is linked to Fragile X syndrome?

    <p>Fragile X-Associated Primary Ovarian Insufficiency (FXPOI)</p> Signup and view all the answers

    What is the main role of the promoter region of the FMR1 gene?

    <p>To initiate protein synthesis</p> Signup and view all the answers

    What genetic characteristic defines a full mutation of the FMR1 gene?

    <p>200 or more repeats</p> Signup and view all the answers

    Which of the following conditions is NOT associated with the FMR1 premutation?

    <p>Fragile X syndrome</p> Signup and view all the answers

    What effect does mosaicism have on Fragile X syndrome symptoms?

    <p>It leads to variation in symptom severity</p> Signup and view all the answers

    How do males and females differ in the inheritance of the FMR1 gene mutation?

    <p>Females inherit one mutated gene and one normal gene</p> Signup and view all the answers

    What primarily causes the symptoms of Fragile X syndrome?

    <p>Mutation causing low or no FMRP production</p> Signup and view all the answers

    What ratio represents the likelihood of females carrying the Fragile X premutation?

    <p>1 in 151</p> Signup and view all the answers

    Which mechanism determines how much FMRP the body produces?

    <p>Mutation size and age</p> Signup and view all the answers

    Which statement best describes carriers of the FMR1 gene mutation?

    <p>They do not experience intellectual impairments</p> Signup and view all the answers

    What happens to the FMR1 premutation when passed from a mother to her children?

    <p>It can convert to a full mutation</p> Signup and view all the answers

    What is a primary characteristic of Fragile X syndrome?

    <p>Behavioral and academic challenges</p> Signup and view all the answers

    What is a common misconception regarding the manifestation of Fragile X syndrome in females?

    <p>They all display severe symptoms</p> Signup and view all the answers

    Which disorder is closely linked to the FMR1 gene mutation in females?

    <p>FXPOI</p> Signup and view all the answers

    During the process of gene expression, what is the role of RNA polymerase?

    <p>Facilitates the production of mRNA from DNA</p> Signup and view all the answers

    What effect does having the FMR1 gene mutation in some cells have on a person's health?

    <p>Might result in milder or no symptoms</p> Signup and view all the answers

    What is a common academic challenge faced by children with Fragile X syndrome in relation to mathematics?

    <p>Anxiety stemming from weak memory of abstract information</p> Signup and view all the answers

    Which physiological feature is typically associated with older children suffering from Fragile X syndrome?

    <p>Prominent forehead</p> Signup and view all the answers

    Which behavior is commonly observed in children with Fragile X syndrome in new social situations?

    <p>Feelings of being overwhelmed</p> Signup and view all the answers

    What is one of the key diagnostic methods for identifying Fragile X syndrome?

    <p>Blood sample analysis</p> Signup and view all the answers

    Which symptoms are parents most likely to notice first in children with Fragile X syndrome?

    <p>Speech and language delays</p> Signup and view all the answers

    What percentage of children with Fragile X syndrome are often misdiagnosed with autism?

    <p>15-25%</p> Signup and view all the answers

    Which characteristic is commonly shared between Fragile X syndrome and autism?

    <p>Difficulty with social cues</p> Signup and view all the answers

    What is an example of a sensory issue that children with Fragile X syndrome might experience?

    <p>Sensitivity to clothing textures</p> Signup and view all the answers

    What type of intervention is crucial for individuals diagnosed with Fragile X syndrome?

    <p>Educational support</p> Signup and view all the answers

    Which behavior is typically displayed by boys with Fragile X syndrome in social settings?

    <p>Aggression or trouble focusing</p> Signup and view all the answers

    What aspect of Fragile X syndrome can lead to outbursts of aggression in children?

    <p>Hyperarousal from sensory overload</p> Signup and view all the answers

    Which of the following treatments is considered beneficial for individuals with Fragile X syndrome?

    <p>Enhancing self-help skills through therapy</p> Signup and view all the answers

    What can prenatal testing determine regarding Fragile X syndrome?

    <p>The presence of the FMR1 mutation</p> Signup and view all the answers

    What role do clinical geneticists play in the diagnosis of Fragile X syndrome?

    <p>Perform genetic tests for confirmation</p> Signup and view all the answers

    Study Notes

    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.

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    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.

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