Case Report: Autism Risk Within the Context of Two Chromosome 15 Syndromes

Appendices

Appendix

Summary of Measures

Actigraphy

Infant movement during sleep at each visit will be tracked using a miniature actigraphy device, specifically a micromini-motionlogger® by Ambulatory Monitoring, Incorporated (AMI). The micomini-motionlogger is placed inside a neoprene ankle band and is attached to the toddler’s ankle. An actigraphy motion sensor provides a minute by minute reading of motion. Motion data are then scored as awake or asleep using an algorithm designed by Dr. Avi Sadeh. Data from the actigraphy device will be used to calculate several indices of infant sleep.

Autism Observation Scale for Infants (AOSI; Bryson et al., 2008)

This is a brief clinical assessment in which an infant’s visual tracking, attention disengagement, response to human faces, imitation, and motor skills are assessed. It is appropriate for infants aged 6–18 months. In previous studies, scores on this test are useful in predicting which infants are at highest risk for developing autism.

Autism Diagnostic Observation Scales (ADOS)

The ADOS-2 is a semi-structured standardized diagnostic tool to measure symptoms of autism in the social communication and restricted and repetitive behavior domains (Lord et al., 2002). The ADOS-2 allows numerous opportunities for social interaction, intentional communication, and pretend play between the child and the examiner. All participants included in analyses received this assessment at their outcome visit, which occurred between 24 and 36 months of age. Depending on age at outcome visit and expressive language level, children received either the Toddler Module, Module 1, or Module 2. To compare symptom severity across modules, total scores on the administered ADOS modules will be converted into severity scores following guidelines established in Gotham et al. (2009) and Esler et al. (2015).

Child Behavior Checklist (CBCL; Achenbach, 1999; Achenbach & Rescorla, 2000)

The 1½–5 year-old version of the CBCL was used to assess children’s attention, behavior and emotional reactivity problems at 24 and 36 months. The CBCL is a parental report measure which assesses 99 problem behaviors in infants and small children. It is commonly used in identifying children with behavior problems and has high reliability and validity (Achenbach, 1999).

Communication and Symbolic Behavior Scales Infant–Toddler Checklist (CSBS-ITC; Wetherby & Prizant, 2002)

The checklist is a 24 multiple choice parent report screener for communication delays. It is currently a validated measure for detecting early signs of communication delays in children aged 9–24 months.

Early Childhood Behavior Questionnaire (ECBQ; Putnam et al., 2006)

The ECBQ was designed to assess 18 fine-grained subdimensions of temperament in children ages 18–36 months. For the present study the attentional focusing, frustration, and fear subscales will be used. For each item, the likert-type scale ranges from 1 “never” to 7 “always”.

Early Social Communication Scales (ESCS; Mundy et al., 2003; Mundy & Newell, 2007; Siebert et al., 1982)

ESCS is a widely used measure of early communicative functions of joint attention, behavior regulation, and social interaction. The experimenter-administered play measure assesses nonverbal communication skills in children between 8 and 30 months of age.

In the ESCS, joint attention skills are divided into initiating and responding skills (IJA and RJA, respectively). The ESCS’s IJA procedure mixes a series of trials (e.g., the child’s response to a mechanical wind-up toy) and spontaneous observations. The child’s IJA score on the ESCS is the number of acts both during the specific IJA tasks and acts that “spontaneously occur during testing.”

Modified Checklist for Autism in Toddlers (M-CHAT; Robins et al., 2001)

M-CHAT is a 20 yes/no question parent report screening tool designed to identify children who should receive a more thorough assessment for possible early signs of ASD or developmental delay. It is currently a validated measure for identifying children at higher risk of developing autism for children aged 16 to 30 months, across three categorical cut-offs (i.e., low-risk 0–2, medium-risk 3–6, high-risk 7–23). For total scores of 7 or above, it is recommended for the child to be referred immediately for a diagnostic evaluation.

MacArthur-Bates Communicative Development Inventories (CDI; Fenson et al., 2007)

The CDI is a series of parent-report measures of child word/gesture use and comprehension from 8 to 37 months of age. For the present study, the child vocabulary checklist will be used to provide an estimate of child word use and understanding. The CDI is a well-established measure with adequate internal consistency, test–retest reliability, and content/construct validity.

Mullen Scales of Early Learning (MSEL; Mullen, 1995)

The Mullen measures cognitive ability in children aged birth to 68 months across five scales: gross motor, fine motor, visual reception, receptive language, and expressive language (Mullen, 1995). This measure was included at each laboratory visit. This measure was also included in determining outcome group membership.

Object Exploration (OE; Ozonoff et al., 2008)

Four objects (a round metal lid, round plastic ring, rattle, small toy cars) are presented, one at a time for 30 s each. Nine uses of the object are coded: shaking, banging, mouthing, throwing, spinning, rotating, lining up, and unusual visual exploration.

Parent–child Play (PCP)

The caregiver will be asked to play with the baby for 5 min as she or he usually does. Toys such as a rattle, toy phone, plastic key ring, blanket, ball, shape sorter, toy car, doll, bottle and scarves will be provided for use during the task. Variables to be rated from the video consist of vocalizations, eye contact, social initiations and responses, and smiling by both infant and caregiver.

Social Communication Questionnaire (SCQ; Berument et al., 1999)

This brief instrument helps evaluate communication skills and social functioning in children who may have autism or autism spectrum disorders. This questionnaire will be completed at the first visit on siblings of the enrolled infant.

Social Responsiveness Scale- Preschool Form (SRS- Preschool; Constantino & Gruber, 2012; Constantino & Todd, 2005;)

The SRS is a 65-item informant-report questionnaire which assesses social interactions, relationships, and communication skills. Items are rated on a 4-point scale of (1) not true, (2) sometimes true, (3) often true, and (4) almost always true. Studies using the SRS report high reliability (Constantino & Todd, 2005; Constantino et al., 2009) and discriminant validity, differentiating well between typically developing, at-risk, and ASD populations (Constantino et al., 2003; Constantino et al., 2000; Reiersen et al., 2007). SRS total T scores may fall within the normal (T score ≤ 59), mild to moderate (T scores 60–75), or severe range (T score ≥ 76).

Vineland Adaptive Behavior Scales (VABS; Sparrow et al., 1984)

The VABS is a parent report measure that assesses children’s skills on three main domains: communication (receptive; expressive; written), daily living skills (personal; domestic; community), and socialization (interpersonal relationships; play and leisure; coping skills). Questions are tailored to individuals with intellectual and/or developmental disabilities, such as ASD. Mothers completed this measure at each laboratory visit.