Down Syndrome: Mid-Term Study Guide for ASD

• Mid-Term Study Guide for ASD

Down Syndrome

• Down Syndrome is caused by an extra copy of chromosome 21.
• It is also called Trisomy 21, a chromosomal abnormality resulting in 3 strands of the 21st chromosome instead of 2.
• Occurs in 1 in 700 births and is the most common genetic cause of intellectual disability (ID).
• Language may be impaired due to macroglossia (large tongue).
• Risk factors include older maternal age, being carriers of the genetic translocation for Down Syndrome and having had one child with Down Syndrome.
• Common physical characteristics include epicanthal folds (fold on the corner of your eye) and hypotonia.
• General characteristics include craniofacial abnormalities, hypotonia, heart conditions, overweight, and developmental delays.
• Deficits include memory, challenges with fluency (may result in stuttering).
• Speech sound and word production difficulties also have physical causes, which can affect feeding and chewing patterns, as well as spoken vocabulary development.
• Expressive language is also impacted including phonology, morphology, and articulation.
• Deficits in spelling occur because of their delayed or impaired abilities in speech, hearing, and memory of language.
• Slow rate of productive vocabulary development also impacts the development of grammar beyond the optimal period for grammatical acquisition

Williams Syndrome (WS)

• Williams Syndrome is caused by a microdeletion of 26 genes on the long arm of chromosome 7 (7q11.23).
• The deletion leads to a rare neurodevelopmental disorder characterized by distinct facial features, congenital heart disease, connective tissue abnormalities, and growth deficiencies.
• Strengths include verbal reasoning, language-related skills, nonverbal reasoning, and verbal short-term memory, including striking verbal language.
• Weaknesses include spatial abilities, which can impact tasks that require visual-spatial skills like puzzles, drawing, and navigating environments, as well as low cognition.
• Language development is delayed, often associated with motor delays such as a late onset of rhythmic hand banging.
• Ages 4-12 see evident motor speech disorders, with persistent speech distortions and atypical voice quality continuing into adulthood.
• Strengths include concrete vocabulary and phonological skills, while weaknesses include relational language and pragmatics.
• Individuals are highly social and outgoing but might still struggle with speech articulation and pragmatic language skills, making social interactions challenging.
• Relational language difficulties impact their ability to understand abstract or inferential meaning in conversations.
• Individuals often displays certain social communication characteristics such as strengths in social engagement coupled with difficulties with pragmatic language.
• Strikes high language skills despite low cognition.

Fragile X Syndrome (FXS)

• Caused by changes in the fragile X messenger ribonucleoprotein 1 (FMR1) gene.
• Characterized by physical features such as a long face, prominent ears, hyperextensible joints, and low muscle tone, along with developmental delays, learning disabilities, and social and behavioral challenges.
• The most common inherited cause of intellectual disability and symptoms are more severe for boys than for girls.
• Strengths: Strong verbal abilities, quick recognition of environmental details, and good visual learning skills.
• Weaknesses: Intellectual challenges, learning disabilities, difficulties with auditory comprehension, memory, sequencing, novel problem-solving, struggles with reading comprehension and math.
• Characterized by a fast speech rate, disordered rhythm, oral and verbal dyspraxia, and increased volume, resulting in a "cluttered" speech quality.
• Language Strengths: Strong receptive and expressive vocabulary, syntactical skills, verbal and behavioral imitative skills, and strong visual skills.
• Language Weaknesses: Difficulties with pragmatic skills (e.g., topic maintenance, impulsive responses, tangential comments, poor eye contact), semantic relations, abstract reasoning, and verbal perseveration.
• Individuals often have delayed speech, social communication challenges, and difficulties in conversations despite having a strong vocabulary.
• More common in males (1 in 7,000) than females (1 in 11,000), with females generally experiencing milder symptoms, though about one-third have significant intellectual challenges.
• Common physical characteristics often observed in males include prominent ears and long face. Language and communication characteristics include echolalia and perseverative speech.

Angelman Syndrome (AS)

• Caused by the loss of function in the UBE3A gene on chromosome 15.
• Most commonly caused by a deletion on chromosome 15.
• Characterized by developmental delays, severe learning difficulties, a wide mouth, prominent chin, ataxic movements, microcephaly, epilepsy, and a happy, sociable disposition.
• Strengths: Strong visual and problem-solving skills.
• Weaknesses: Severe intellectual disabilities, attention difficulties, and memory challenges.
• The genetic disorder that causes developmental disabilities and nerve-related symptoms.
• Communication characteristics most commonly include significant speech delays with limited verbal language.
• Common physical and behavioral features include hyperactivity, frequent laughter, and ataxic gait.
• Most individuals are nonverbal or have very limited speech.
• Typically have stronger receptive language abilities and may use single words, signs, or AAC devices for communication, though verbal expression is significantly limited.
• People are highly social and prefer to communicate through facial expressions, gestures, pointing, physical manipulation, and signing. AAC is a common tool for communication.
• Affects both males and females equally (1 in 12,000–20,000 live births), and 60% of individuals experience seizures. Many also have autism spectrum disorder (ASD) and digestive system complications.

Autism Spectrum Disorder (ASD)

• Primarily characterized by difficulties in social communication and restrictive, repetitive behaviors.
• The exact cause is unclear but believed to result from neurobiological/brain variations, genetic factors (more likely if a sibling or parent has ASD), and environmental influences such as exposure to environmental toxins, brain injury around birth, or low maternal folic acid levels.
• Individuals often have joint attention deficits and difficulties in social and emotional learning, including challenges in understanding and regulating emotions, appreciating others' perspectives, and developing prosocial goals and interpersonal skills.
• Executive functioning deficits are also common, including limited flexibility, poor problem-solving, disorganization, and lack of inhibition.
• Can have minimal effects on intelligibility but present with articulation errors on later-developing sounds and differences in prosody (e.g., overly loud speech, higher pitch, misplaced stress).
• Strengths: segmental phonology, syntax, lexical comprehension, and imitation.
• Weaknesses: impaired prosody, pronoun difficulties, echolalia, formulaic language, neologisms, literacy deficits, and delays in word and syntax acquisition.
• People often experience deficits in nonverbal communication (e.g., poor eye contact, reduced facial expression), social reciprocity (e.g., unusual social styles, one-sided conversations, failure to respond to name), and forming and maintaining relationships.
• May struggle with Theory of Mind, conversational skills, and symbolic play.
• Characteristics are not linear and occur on a spectrum.
• Common speech and language characteristics include immediate or delayed echolalia.
• Common co-occurring conditions include seizure disorders.
• Severity may vary by context and may fluctuate over time (it's not static).
• The two major areas identified as core features in the DSM-V are social communication/interaction and restrictive, repetitive patterns of behavior/ interests.
• Research has shown that echolalia has a specific communicative intent.
• Segmental phonology, syntactic comprehension, and lexical comprehension are often unimpaired.
• Early deficits include smiling, pointing, eye gaze, joint attention, or responding to people.
• Specific impaired abilities related to communication include nonsegmental phonology (prosody), pronoun difficulties, deictic terms, echolalia, formulaic language, neologisms, and communicative functions.
• Preserved abilities include segmental phonology and syntax, lexical and syntactic comprehension, and imitation.
• A common deficit is the inability to see the perspective of others, called Theory of Mind.
• Diagnosed clinically utilizing behavioral symptoms.
• Address clinically using person-first language, unless clarified by the client themselves.

Fetal Alcohol Spectrum Disorder (FASD)

• Fetal Alcohol Syndrome (FAS) is caused by prenatal exposure to alcohol.
• Results in a range of behavioral, learning, and physical problems, including cognitive deficits, speech and language impairments, and social communication challenges.
• Associated with cognitive challenges like poor memory, learning disabilities, intellectual disability, low IQ, difficulty in school (especially with math), attention difficulties, and poor reasoning and judgment skills.
• Causes deficits in executive functioning, attention, and impulse control
• Common physical characteristics include short palpebral fissures, thin upper lip, and smooth philtrum.
• Affects speech with possible issues with voice quality, forming words, fluency, and pronunciation.
• Language difficulties include trouble retrieving commonly used words, creating grammatically correct sentences, and producing meaningful language.
• Receptive language challenges affect memory, sequencing, word discrimination, comprehension, selective attention, word association, and generalization.
• Language developmental difficulties can negatively impact academic performance and social interactions, making it harder to effectively communicate, engage in conversations, and succeed in educational settings.

Other Information

• It's false that children with cognitive impairment would have concomitant language impairment.
• The NAC (2009) identified BEHAVIORAL interventions as having the strongest research evidence and effectiveness.
• The current gold star developmental screening test for ASD is the Modified Checklist for Autism in Toddlers – Revised (MCHAT-R).
• Personal characteristics that need to be considered when choosing assessments are overall problem severity, communication domains affected, the affected individual's age and developmental stage.
• Adaptive behavior is "the collection of conceptual, social, and practical skills that have been learned and are performed by people in their everyday lives.”

ASD Assessments

• *ADOS-2 (Autism Diagnostic Observation Schedule – 2) is a standardized, semi-structured observational assessment to diagnose ASD and determine severity levels based on direct interaction with the individual.
• *ADOS-2 is the best ASD diagnoses for individuals of all ages, helping to determine the severity of ASD symptoms using specific criteria and behaviors.
• *ADOS-2 test can assess ages 12 months through adulthood, assessing their communication, social interaction, play, and repetitive behaviors, lasting about 40-60 minutes.
• Overall, the test identifies impairments in body structure and function as well as co-morbid deficits or conditions, limitations in activity and participation, contextual (environmental and personal) factors, and quality of life.
• A team-based approach to ASD intervention requires interdisciplinary and multidisciplinary expertise.
• Screening plays a critical role in assessment, also treatment planning, and progress monitoring.
• School-based evaluations determine categorical eligibility for special education services:
  • Does a disability exist? What is the educational impact?
  • Gather information to better inform programming decisions.
• Early Start Denver Model emphasizes play and relationship building with ABA teaching strategies.

• Medical ASD evaluations are based on the DSM-V where healthcare professionals conduct differential evaluations and may include recommendations for medical and supplemental therapies and education across settings.
• Educational ASD evaluations are based on IDEA. Part C of IDEA qualifies for FIRST STEPS with a medical diagnosis.
  • Part B assessment is conducted by a multidisciplinary team to determine eligibility of services and identify areas that adversely affect education.
  • The IEP team addresses goals, accommodations, and school-based services or 504 if appropriate.
• Good screens for ASD include: M-CHAT and M-CHAT R/F, The Social Communication Questionnaire (SCQ), STAT (Screening Tool for Autism in Toddlers & Young Children), Ages and Stages Questionnaire (ASQ), First Year Inventory (FYI).
• Steps for ASD diagnosis include: Review Records, Interview Parents/Guardians/Caregivers, Assessment for Core Features, Physical Exam, consider Conditions, Establish Diagnosis, Communicate Diagnosis, and initiate Assessment Treatment Planning.
• Steps of ASD assessment:
  • Review records
  • Interview parents/guardians/caregivers
  • Assess core features of ASD
  • Comprehensive physical exam and additional investigations
  • Consider differential & co-occurring conditions
  • Establish ASD diagnosis
  • Communicate with family
  • Initiate assessment & treatment planning
• Best practices include comprehensive evaluation, a multidisciplinary team, gold standard tools, functional assessments, validity, reliability, culturally informed practices.
• *ADOS-2 (Autism Diagnostic Observation Schedule – 2), *CARS-2 (Childhood Autism Rating Scale -2), *ADI-R (Autism Diagnostic Interview – Revised) & SRS-2 (Social Responsiveness Scale – 2) are ASD-specific diagnostic tools.
• Roles and responsibilities of the SLP include screening, diagnosis, and intervention planning.
• A comprehensive speech-language evaluation should include assessment of relevant case history, spoken language (expressive and receptive, verbal (including echolalia) and nonverbal (including gestures)), written language (as appropriate) and social communication.
• It's important to be culturally informed because many people from racial/ethnic groups are underdiagnosed for ASD, and cultural factors often affect the family's reaction to an ASD diagnosis and their decision regarding services.
• Genograms visualize family history currently and over time, usually up to three generations whereas ecomaps describe the family's larger social context.
• Content can be targeted in treatment using standardized measures and analyses of speech, language, social interaction samples to identify intervention targets.
• Dynamic assessments help determine the kind of support a client needs while being targeted.
• Determining intervention targets should weigh the child’s greatest need and areas with evidence-based treatments.
• Preverbal communication occurs around 6-12 months.
• First words occur around 12-18 months.
• Word combinations occur around 18-20 months.
• Sentences occur around 30-48 months.
• Complex language occurs after 48 months.
• Dynamic assessment identifies linguistic and environmental variables that ease the learning process for specific skills.
• Vineland Adaptive Behavior Scales and MB-CDI are needed to monitor long-term progress.
• Informal tools and criterion-referenced measures are needed to monitor short-term progress.
• It is unlikely that children with cognitive impairment would have concomitant language impairment.
• The three assessments for communication (CTT) are: Children's Communication Checklist – Second Edition (CCC-2), The Functional Communication Profile (FCP), and The Communication Matrix.
• Three assessments for Global Language (CTR) are: Clinical Evaluation of Language Fundamentals – Fifth Edition (CELF- 5), Test of Adolescent and Adult Language – 4 (TOAL-4), and Rossetti Infant-Toddler Language Scale.
• Three assessments for Pragmatic Language (LTS): Language Use Inventory for Young Children, Test of Pragmatic Language, Second Edition (TOPL-2), and Social Language Development Test (SLDT).
• Three assessments for Play (DTS): Developmental Play Assessment, The Revised Knox Preschool Play Scale (RKPPS), and Symbolic Play Test.
• Three assessments for daily living (VAS): Vineland Adaptive Behavior Scales – Third Edition, Adaptive Behavior Assessment System – Third Edition (ABAS-3), and Scales of Independent Behavior – revised (SIB-R).
• Three assessments for Behavior (CHB): Child Behavior Checklist (CBCL), Home Situations Questionnaire – Autism Spectrum Disorders (HSQ-ASD), and Behavior Assessments for Children and Adolescents (BASC-3).
• Three autism screeners (MTS) include: Modified Checklist for Autism in Toddlers (M-CHAT-R/F), The Social Communication Questionnaire (SCQ), and Screening Tool for Autism in Toddlers and Young Children (STAT).
• Three assessments to determine an ASD diagnosis and severity (ACA) include: ADOS-2 (Autism Diagnostic Observation Schedule – 2), CARS-2 (Childhood Autism Rating Scale – 2), and ADI-R (Autism Diagnostic Interview – Revised).
• Three assessments for sensory processing (SMA) include: Sensory Processing Measure (SPM), Miller Function & Participation Scales (M-FUN), and Adolescent/Adult Sensory Profile (AASP).
• Three assessments for cognition include: Wechsler Intelligence Scale for Children (WISC-V), Cognitive Assessment System (CAS-2), and Kaufman Assessment Battery for Children – 2nd Edition Normative Update.
• ASD should be used as the sole diagnosis for individuals with well-established diagnoses of autistic disorder, Asperger disorder, or PDD-NOS by using the DSM-IV-TR criteria.
• The diagnosis of ASD requires deficits in social communication/ interaction (must meet all three of the social criteria): deficits in social reciprocity, deficits in nonverbal communication and deficits in developing and maintaining relationships appropriate to developmental level, as well as restricted and repetitive interests meeting two of the four behavior criteria Repetitive or stereotyped body movements, Rigid adherence to routines, Fixated and/or perseverative interests, and Atypical responses to sensory input.
• Additional diagnostic criteria of ASD in addition to the main two are presence in early development, clinically significant impairment and not better explained by ID or global developmental delay.
• ASD characteristics are NOT linear as they are on a spectrum
• If a child does not meet the criteria for ASD under DSM-5 they may meet the criteria for Social (Pragmatic) Communication Disorder, characterized by persistent difficulties with the use of verbal and nonverbal language for social purposes. Difficulties may be in social interaction, social understanding, pragmatics, language processing, or any combination of the above.
• ASD is significantly more likely to occur in males than females by 4-5 times and occurs in 1 in 42 boys and 1 in 189 girls.
• Average age of diagnosis of a child with ASD is four or later with the earliest diagnosis possible at as early as 18 months.

ASD Treatments

• Interventions for children with ASD can fit under Behavioral, Developmental, Educational, Social-Relational, Pharmacological, Psychological, Complementary, and Alternative. Specifically, ABA focuses on the Discrete Trial Training and the Pivotal Response Training.

• Intentional Communication allows prelinguistic children to express needs, engage socially, and share attention with caregivers. It is a precursor to verbal language.

• Children with ASD often struggle with joint attention, gesture use, and integrating eye gaze with vocalizations and struggle with deictic and symbolic gestures and may use gestures in unconventional ways.

• An SLP can intervene in joint attention with children who have ASD through joint attention training and enhanced milieu teaching.

• Early Intervention can teach them. Early Intervention, gesture imitation training, and parent modeling of gestures will aid the process.

• Often show impairments in imitation, particularly with facial and novel tasks, which can affect their ability to engage in reciprocal social interactions

• Wide range of abilities in word learning, with some having larger expressive than receptive vocabularies at younger ages.

• Enhanced Milieu Teaching focus on interpreting prelinguistic behaviors, labeling objects, and expanding utterances to support both receptive and expressive vocabulary.

• Adults should model language one step beyond the child's current expressive abilities, because its within their own zone of proximal development.

• Unconventional verbal behaviors include echolalia, perseverative speech, and excessive questioning which can serve as a function for requesting, self-regulating, answering questions, or engaging in conversational turn-taking.

• We can intervene in echolalia and perseverative speech by viewing unconventional verbal behaviors as opportunities to support communication. For example, modeling functional language or expanding on echolalic phrases can help scaffold communication development.

• Often experience difficulties integrating sensory information, even when unisensory processing is intact

• Leveraging visual strengths in individuals with ASD can enhance their ability to process multisensory information.

• Struggle to initiate or respond to joint attention, showing a preference for objects over people

• JASPER (Joint Attention, Symbolic Play, Engagement, and Regulation) can improve social and language outcomes in children with ASD

• Often exhibit challenges in both cognitive and social play, such as preferring solitary play, engaging in repetitive behaviors, and struggling with symbolic or cooperative play.

• Struggle to initiate or respond to joint attention, showing a preference for objects over people.

• Deficits in social understanding, deficits in individuals to predict, interpret, and respond to the thoughts, emotions, and intention of others

• Role-playing, perspective-taking, modeling/scaffolding, explicit teaching.

• Produces simpler sentences, omit tense markers, and use incorrect verb forms and is more pronounced in individuals with comorbid language impairments

• While articulation is generally intact, individuals with ASD may exhibit residual speech errors and deficits in phonological processing, such as blending phonemes and repeating nonsense words.

• Includes challenges in conversational turn-taking, topic maintenance, prosody, and understanding nonliteral language.

• Traditional speech/language therapy focusing on various aspects of language

AAC strategies for ASD

• Manual signs, Picture exchange communication system (PECS), graphic symbols, and speech-generating devices (SGDs)
• Visual learners, interest of inanimate objects and helps with difficulty with complex cues, change, complexities of social interaction, motor planning, anxiety, behavioral challenges, and difficulty with memory
• Aided language stimulations and modeling and social interactionist/transactional approach
• Participation mode encourages AAC use for daily engagement. Social networks model focuses on using AAC to build relationships. SCERTS Model supports social communication, emotional regulation, and transaction-based learning.
• AAC assessment should include, Interviews, surveys, and observations of the individual and communication partners in daily activities, conducts assessments of the individual's specific skills.
• Understand the sociopragmatic rules of the family's culture (e.g., how communication is typically structured), Recognize attitudes toward technology use and AAC acceptance, Determine whether AAC is a priority for the family and how they view its role, Ensure AAC symbols align with cultural experiences, word order, and home language, Involve families in vocabulary selection to ensure relevance

Early Start Denver Model (ESDM)

• Key philosophical elements include developmental framework, relationship-based, parents at the helm, learning focused, and interdisciplinary approach.
• ABA teaching strategies use play to build positive and fun relationships, boosting language, social, and cognitive skills.
• Intervention should be individualized and incorporate ABA principles within naturalistic contexts.
• Highly flexible delivery (caregivers, therapists, teachers at home, clinics, classrooms, and community settings).Positive social interactions, shared activities, and natural communication opportunities.
• Encourage caregiver involvement to promote consistent engagement across environments
• Key target areas include language, social skills, behavior and cognition, motor skills, and personal independence.
• 7 ABA main points: Antecedent, Behavior, Consequence Model, Reinforcement, Punishment (less common), Prompting and Fading, Shaping Task, Analysis and Chaining, and Generalization.
• Following daily routines and transitions, participating in Activities, play, independence, interactions
• ESDM Curriculum Checklist assesses communications motor skills.

Discrete Trial Instruction (DTI)

• Is a structured teaching technique used to help children with ASD acquire new skills by breaking down tasks into smaller, and manageable steps
• Is a tool for learners to consistently provide the desired response in the absence of programmed reinforcement
• Skills addressed include, Social communication initiations, responses to play, and daily living skills (use of money)
• BCBA's, SLPs, RBT's, teachers, and even trained caregivers can implement DTI. Requires training.
• Components : Present stimulus, learner provides a response with Prompts, consequence with Reinforcements, Wait Time and trials.
• In order for greatest to least amount of support? full physical, partial physical, model, gestural, positional, visual, verbal Easy for kids to understand with immediate feedback,helps with reduction of problem behavior, fast pace