What Information SPARK Collects, and Why What Information SPARK Collects, and Why LeeAnne Green Snyder, Ph.D. LeeAnne Green Snyder, Ph.D. May 30, 2019 May 30, 2019
Acknowledgements SPARK Families SPARK Team Clinical Sites Libby Brooks, M.S.
Agenda for today’s webinar I. Define phenotyping II. Describe some of our research goals in SPARK III. Describe our measures and what they are about IV. Review some of our first findings in SPARK
What is phenotyping? • Phenotyping refers to measuring and describing the traits –behaviors, personality, abilities, medical conditions and appearance– that result from your genotype (our genes) and your environment. O ppositjonal S pecific Learning Defiant ADD/ADHD Difficultjes Disorder S leep D epression Disturbances Autism Spectrum Disorder S ensory A nxiety Core symptoms: Disorders Disorders Challenges with social-communication Presence of stereotypic/repetitive behaviors D iet/Feeding T ouretue’s Issues S eizure GI G ifued Disorders Problems
An individual phenotypic profile Common in ASD: Sociable Withdrawn Verbose Minimally verbal No sensory habits Sensory seeking No motor habits Motor mannerisms Restricted interests, perseverative Variety, flexible Mood swings, meltdowns Even or flat affect Hyperactivity Underactive Rigid, sameness Flexible Comfort with sensory Sensory and food aversions Specific learning challenges Strengths in memory Executive functioning challenges Organized Takes things in stride Fears and anxiety
Finding Subtypes of ASD → Can we group individuals into “ types ” of ASD based on similar clusters of traits? → Do these types of ASD have different genetic bases, and different paths to well-being?
Summary: Goals of phenotyping Autism is different for everyone, but many different types of people are lumped ASD under the umbrella term of “ASD” → How and why are some people with ASD different from others?- What is underlying these differences? → Do some traits tend to cluster together, and do they link to particular genes? → Are there other factors in the environment that interact with our genes to contribute to ASD? P A G E 7
A few of our questions in SPARK • Who is in SPARK? • How and why are boys and girls with autism different? • What are early signs of autism, and how do babies with autism develop? • What are predictors of improved language and independence? • What other medical issues are common in autism? • How do children with autism change as they grow into adulthood? • What are the needs of adults with autism?
What information we collect through SPARK surveys • Registration questions • Age when diagnosed • Who made the diagnosis • Current language level and cognitive level • Any services? • Basic Questionnaire - Medical Screening • Background History Form
What we collect through standardized measures What is a standardized measure ? ● A standardized measure is a questionnaire or test that aims to combine or ○ compare many people on the same trait, and so it must use the same methods. Same questions and same scoring for everyone ■ Better quality if information is measured or asked more than once, in different ways ■ There are many published standardized tests out there! ● Current SPARK Standardized measures: ● Social Communication Questionnaire – Lifetime (Rutter) ○ Repetitive Behavior Scale – Revised (Bodfish) ○ Coordination Questionnaire (Wilson) ○
Why do we collect these measures? SPARK Measures • Core ASD traits • Other behavior diagnoses • Diagnosis details • Impact of ASD behaviors • Social Communication Questionnaire • Markers of rare genetic variants • Repetitive Behavior Scale-Revised • Environmental factors • Social Responsiveness Scale (2020) • Demonstrate the strength of our • Background History diagnosis data • Basic Medical Screening Questionnaire • Check if siblings have signs of ASD • Vineland Adaptive Behavior Scales (2019) • Other important factors • Child Behavior Checklist (CBCL) - Adult (ABCL) For example, (2019) • Developmental level • Socioeconomic status
Where does your SPARK data go? Clues to discovering new autism risk genes , to report to families and to the world Research Match Data for the Approved researchers look for certain community: characteristics in individuals to join new Snapshots studies Ongoing SPARK phenotypic research Share with approved • Predictors of outcomes in adulthood • Differences between males and females researchers around • A method to rate the effect of genetic changes the world, to make new • What factors affect parent stress discoveries
Research Match Research studies Language ability Sleep Environmental Medication problems Eye tracking exposures trials Individuals Age Service needs Aggression Work life Genetic Eating Computer Movement conditions Sleep studies interfaces therapy Problems Special Brain EEG interests imaging Repetitive Telehealth thinking
SPARK Snapshots
What are we finding in SPARK?
What have we collected in SPARK so far? Measure Purpose Subject How many How many in families our last Data completed it Release Round 1 Social Communication Core behavior ASD children 65% 43,184 Questionnaire-Lifetime ASD risk & NASD sibs Basic Screening Medical markers All family 66% 90,549 Complications members Round 2 Repetitive Behavior Scale- Core behavior ASD 51% 23,011 Revised RRBs children/dep endents Coordination Questionnaire Motor delays ASD children 51% 16,705 Background History Demographics ASD kids 49% 23,488 Questionnaires Development ASD adults 54.5% 1,660 Family NASD sibs 48.5% 10,302 background
Registration and Background History
Who is in the SPARK community? n (%) Everyone in SPARK 150,064 ASD (age 1-85 years) 59,218 Adults over 18 8,713 30000 Participant ages in SPARK Adults with guardians 5,025 Adults without guardians 3,688 25000 Children under 18 50,505 20000 Male/Female probands (%) 80/20% 15000 Individuals with intellectual 10,527 ( 19 %) 10000 disability Adults with guardians 2,241 (46%) 5000 Children 8,286 (16%) 0 Age 1-4 Age 5-11 Age 12-17 Age 18-24 Age 25-34 35-44 Age 45-54 Age 55 Minimally verbal children/ and up dependents (single or no words) 14,432 ( 26.6 %) Multiplex families (2+ ASD members) 6,552 Siblings without ASD 24,076
Race and ethnicity 2% 1% 5% African American (Total 25,281) 4% Asian 10% Native American/Hawaiian Other 78% More than one race White Hispanic 17%
Language levels No speech 13% Single Words Fluent 13% Speech 57% Phrase Speech 17%
Background History Early development School and services Family history of ASD Adult supports Employment Relationships Interests and hobbies
Early development in First concern 21,253 Children with ASD unusual repetitive speech, 2% behavior, 9% Average On age time? ✓ late speech, Sitting up 6 months 28% social, 19% ✓ Walking 14 months regression, Single words* 21 months 10% mood, 9% Phrase speech (over age 2) 33 months late walking, other, 12% 11% • Some children who were late to talk were still able to Typically in the 1 st or 2 nd year of life • learn after age 7 Average age of first concern was 22 months •
Regression Affects 44% of children ● Usually, the 2 nd year of life 27% ~40% social, lost 33% lost Average age, Average age, both 34 months speech play, 22 months other skills Lasts 1-2 years *1/3 not resolved Likely to show later cognitive delays
Adults in SPARK Age at first diagnosis Females Males Age at first diagnosis Age at first diagnosis 21% 28% Under 5 Under 5 33% 25% 6 - 17 6 - 17 39% 18+ 54% 18+
Adults in SPARK Education & Employment Employment Education Level bachelor's degree <1% College Full-time high school diploma or 7% 4% GED 6% 23% employed full time graduate or professional 15% 9% degree 30% employed part time some college not currently working or current college student 10% retired student associate's degree 17% full-time caregiver trade school 32% 16% 16% High school some high school Part-time 15% did not attend high school Some college Grad school 1,660 adults
Basic Questionnaire: Medical Screening
Basic Questionnaire Medical Screening I. Medical and environmental complications o Pregnancy & birth complications: prematurity, insufficient oxygen, brain hemorrhage, alcohol or drug exposure o Severe vision or hearing impairments o Neurological problems: traumatic brain injury, brain infection (such as meningitis), lead poisoning II. Major medical issues that commonly occur in genetic syndromes o Seizures o Growth conditions – diagnosed short stature, underweight, obesity, microcephaly and macrocephaly o Birth defects III. Other diagnoses o For example, development, language, ADHD IV. Previous genetic diagnosis or genetic study
What we’ve learned about other diagnoses 60% 50% 40% 30% 20% 10% 0% DepressionAnxiety ADHD DepressionAnxiety ADHD DepressionAnxiety ADHD Independent Adults Dependent Adults Children
Current Standardized Measures: Social-communication development Repetitive behavior Motor coordination
Recommend
More recommend
