Study of Toddlers With Language Delay

Objective

This investigation will focus on two areas: 1) early communication impairments as predictors
of autism spectrum disorder (ASD) and later developmental delays, and 2) the relationship
between communication and evidence of CNS function (sleep, EEG) and structure (MRI DTI and
volumetrics) in young children at risk for ASD. The objective is to delineate early
communicative impairments that predict ASD vs. other developmental delays and to examine how
these impairments correlate with brain abnormalities in both structure and function.

Study Population

We will recruit 64 children [n=32 at 12 months of age (plus or minus 2 months); n=32 at 18
months of age (plus or minus 2 months)] who are at-risk for ASD due to communication/language
delays (at-risk group). The at-risk children will be matched at initial on chronological age,
SES, and sex, to typically developing children (n=75) with no history of developmental
delays. These 139 participants will hereafter be referred to as the toddler sample. At the 36
month final visit, diagnostic status (e.g. ASD, non-ASD specific delays, catch up) will be
determined for children in the at-risk group. In addition, 10 healthy adults, aged 18-40 will
serve as control participants for the purpose of piloting the functional paradigms for the
MRI portion of the protocol.

Design

We propose to conduct a prospective, longitudinal study of toddlers at-risk for ASD compared
to typically developing toddlers. Children will complete behavioral testing and an overnight
Sleep/EEG as well as MRI at either a 12 or 18 month initial. Follow-up visits that include
behavioral assessment will occur at 24 and 36 months for all children (and at 18 months of
age for the 12-month cohort). The Sleep/EEG and MRI will be repeated at the 36 month final
follow-up.

Outcome Measures

Autism symptoms, language status, and cognitive development at 36 months will serve as the
primary outcome measures.

- INCLUSION CRITERIA:

At-risk Group:

1. 12 or 18 months of age (plus or minus 3 months)

2. Limited spoken words (for both the 12 and 18 month groups)

3. Expressive and Receptive scores in the Very Low range on the Mullen Scales of Early
Learning (a standardized observational measure),

Typically Developing Group:

1. 12 or 18 months of age (plus or minor 3 months)

2. Development in nonverbal and verbal areas within age expectations (per scores on all 4
domains of the Mullen Scales of Early learning no more than 1.5 standard deviation
below the mean).

Healthy Adult Group:

1. 18-40 years old

EXCLUSION CRITERIA:

At-risk Group:

1. Primary language spoken in the home is other than English

2. Prematurity at birth (defined as less than 36 weeks gestation), or birth weight
significantly below normal for gestational age (SGA- small for gestational age) or
other significant birth trauma.

3. Motor or other medical impairment deemed responsible for delays (e.g. cerebral palsy;
known genetic disorder)

Typically Developing Group:

1. Primary language spoken in the home is other than English

2. Prematurity at birth (defined as less than 36 weeks gestation); or birth weight
significantly below normal for gestational age (SGA- small for gestational age).

3. Motor or other medical impairment that would interfere with study participation

4. Known genetic disorder

5. Status as a younger sibling of a child diagnosed with autism

Healthy Adult Group:

1. Historical or current psychiatric, neurological, or serious medical illness

2. Primary language is other than English

3. Difficulty hearing (as some sounds and words will be presented during the MRI scan)

4. Head injury with loss of consciousness in the last year

5. Metal in the body which would make having an MRI scan unsafe, such as pacemakers,
medication pumps, aneurysm clips, metallic prostheses (including metal pins and rods,
heart valves or cochlear implants), shrapnel fragments, permanent eye liner or small
metal fragments in the eye that welders and other metal workers may have.

6. Discomfort in small closed spaces (have claustrophobia) so that there would be
discomfort in the MRI machine.

7. Inability to lie comfortably flat on the back for up to 60 minutes in the MRI scanner

8. If female, and pregnant

9. Inability to provide own consent