Nelson Laboratory Atypical Development

Brief Description
The aim of the consortium is to develop reliable and objective measurements of social function and communication in people with autism. Using EEG to measure brain function, eye tracking technology to measure visual attention, and automated recording techniques to assess behavior and speech, children will be monitored over a six-month period. In addition to the behavioral measures and biomarker data, this community resource will also include DNA samples from children with ASD and their parents for use in future genetic studies. The goal is to create a set of measures that can be used in clinical trials to determine which treatments are best for which patients and who will benefit from a particular treatment. The ultimate goal is to validate a set of tools that will enable clinicians to objectively measure and predict how children with ASD respond to treatment.

Participation Details
Caregivers will complete a screening phone call and questionnaires about their child. Children will complete in-person study visits at Boston Children’s Hospital over a 6 month period. The study is made up of 3 pairs of visits. Caregivers would be coming into the lab a total of 6 times over the course of 6 months. Scheduling is flexible including weekends.

Eligibility for Participation
We are currently recruiting both typically developing children and children with a diagnosis of ASD.

Research Contact: To learn more about the study or to participate, please call us at 857-218-3182 or email our team at abc-ct@childrens.harvard.edu

Brief Description
The main goal of this study is to map early development and identify infants at risk for developing an Autism Spectrum Disorder and/or language and communication difficulties. By screening early and learning more about neural and behavioral functioning, we aim to improve techniques for early identification and intervention.

Participation Details
This study involves five visits to the Laboratories of Cognitive Neuroscience lasting 3-4 hours each. Visits will be scheduled for: 3, 12, 18, 24, and 36 months (outcome visit). These visits can be scheduled at your convenience during the day or the weekend. All sessions are held at our lab in the Longwood Medical Area.

Research Contact: ISP@childrens.harvard.edu

Full Description
The Infant Screening Project is a collaborative project between Boston Children’s Hospital and Boston University that studies the development of language and social behavior in babies. The purpose of this study is to map early development and identify infants at risk for developing an Autism Spectrum Disorder and/or language and communication difficulties. By screening early to evaluate potential biological identifiers related to social ability and to learn more about neural and behavioral functioning, we aim to improve techniques for early identification and intervention. In order to thoroughly investigate the questions we are asking we’ll be using a variety of methods including; clinical, behavioral, electrophysiological (EEG/ERP) assessments for both children with autism and typical controls. Parents will also be asked to fill out a variety of questionnaires over the four visits in order to collect data about their child’s development.

Brief Description
The purpose of this study is to improve our understanding of how differences in brain activity affect learning, language, and behavior in children with Fragile X Syndrome (FXS). Currently there is no effective treatment for FXS and nearly half of all individuals meet criteria for Autism Spectrum Disorder (ASD). Our goal is to find brain markers that predict cognitive, language, and behavioral difficulties in two overlapping neurodevelopmental disorders — FXS and ASD — and to better understand differences in brain activity between children with and without FXS.

Eligibility for Study Participation

• Boys or girls 32-84 months old with a diagnosis of Fragile X Syndrome based on full mutation of the FMR1 gene.
• Boys or girls 32-84 months old with an autism spectrum disorder diagnosis
• Boys or girls 32-84 months old who are typically developing.

Participation Details This study involves a single visit to the lab. Each visit will last about 3-4 hours. These visits can be scheduled at your convenience during the day or the weekend.

Research Contact: FXSNeuralMarkers@childrens.harvard.edu or call 617-355-4373

Full Description
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability impacting 1 in 4,000 boys and 1 in 6,000 girls. In addition to cognitive deficits, children with FXS often struggle with significant language delays and behavioral challenges, and nearly half of all individuals meet criteria for Autism Spectrum Disorder (ASD). Currently there is no effective treatment for FXS. Animal models of FXS have led to greater understanding of the neurobiology of the disorder, and identified key drug targets that improve cognitive and behavioral phenotypes. Despite extensive research in animal models, only a handful of studies have investigated brain activity and function in children with FXS, presenting a huge roadblock in translating lab-developed therapeutics to patients. This study aims to identify and characterize brain-based markers that predict cognitive, language, and behavioral deficits in young children with FXS and ASD. We will use EEG (a low cost, non-invasive technique) to measure brain activity in response to sensory stimuli, and correlate this with a range of cognitive, language, and behavioral measures. The brain-based markers will then be used in future clinical trials as objective measures for targeted outcomes. Results from this study should improve our understanding of the neural mechanisms that underlie some of the core ASD symptoms and comorbidities seen in FXS.

Brief description
This study will investigate whether a behavioral intervention can improve social communication skills in infants with TSC, with the overarching goal of lessening symptomatology related to ASD. Research has shown that early intervention improves cognitive and behavioral outcomes in children with atypical development. The proposed intervention adapts a parent-mediated intervention that has successfully improved outcomes in toddlers with idiopathic ASD. In addition to testing the primary effects of this early intervention on developmental outcomes of infants with TSC, we also will use electrophysiological (EEG) methods to examine low level visual processing, face processing and resting state EEG oscillations prior to and after intervention.

Eligibility for Study Participation

• Infants between 12-36 months of age who have a clinical diagnosis of Tuberous Sclerosis Complex (TSC)
• English is primary language

Participation Details
Participation requires three visits to the hospital for behavioral assessments before entry into intervention, after exiting intervention, and at a follow up visit. Intervention includes 12-15 weekly intervention sessions. These can be done remotely with the option of coming to the hospital for 4 of these sessions

Research Contact: tscjasper@childrens.harvard.edu or call: (857) 218-3010

Full Description
Infants with Tuberous Sclerosis Complex (TSC) are at high risk for neurodevelopmental disabilities, including autism spectrum disorder (ASD) and intellectual disability (ID). In a recent prospective study of infants with TSC, we found that as early as 6 months of age, infants demonstrated delays in non-verbal behaviors critical for the development of social communication skills, and that by 12 months these delays generalized to both verbal and non-verbal cognition. Moreover, a decline in non-verbal cognition over the second two years of life predicted the development of ASD. Based on this clear evidence of early delays, we propose to investigate whether a behavioral intervention can improve social communication skills in infants with TSC, with the overarching goal of lessening symptomatology related to ASD.

Brief description
The main goals of this study are to determine the safety and efficacy of Everolimus on neurocognitive and social deficits in patients with PTEN. The primary neurocognitive endpoints are working memory, processing speed, and fine motor skills. Currently, there are no effective therapies for individuals with PTEN that targets these core features. Other exploratory objectives include determining the effect of the medication on participants’ microbiome and electroencephalography (EEG) measures. We are also looking into protein biomarkers of PTEN.

Eligibility for Study Participation

• Males and females between 5 and 45 years of age with a confirmed PTEN mutation and an IQ at or above 50 are eligible for this study.
• Patients must also meet a series of safety criteria, which is determined by medical history and some lab work.

Participation Details
This study involves a blinded phase and an open label phase. In the blinded phase, patients will come to the study site 5 times in approximately 6 months. Three of these visits (baseline, month 3, and month 6) will include optional EEG assessments that will be done in the lab. The open label phase is available to participants who receive placebo in the blinded phase. The open label phase will consist of 3 more study site visits, 2 of which will include the EEG assessments. Both phases will have scheduled phone calls so study staff can check in with patients and families. Visits vary in length and can take between 2 and 8 hours. These visits can be scheduled at your convenience during the weekdays.

Research Contact: Amelia.Diplock@childrens.harvard.edu, 617-919-1476

Full Description
Patients diagnosed with PTEN Hamartoma Syndrome often have cognitive deficits such as language delays, behavioral challenges, and comorbid Autism Spectrum Disorder (ASD). PTEN syndrome is associated with overactivity in the mTOR pathway. For this reason, the study is looking at the effect of Everolimus, an mTOR inhibitor, on the neurocognitive deficits often seen in patients diagnosed with PTEN. The study is hoping to see positive effects of the medication on working memory, processing speed, and fine motor skills.

Brief description
This study will investigate whether a behavioral intervention called JASPER (Joint Attention Symbolic Play Engagement Regulation) can help young children with Down syndrome with their development. Specifically, the study will examine whether JASPER can improve how well children with Down syndrome pay attention, interact with their parents, and adjust their emotions and behavior.

Eligibility for Study Participation

• Infants between 36-48 months of age who have Down syndrome
• Parents must be available to participate in all of the intervention and study sessions
• English is primary language

Participation Details
Participation lasts for 6 months total and involves 1) parent surveys (at home and during visits), 2) 3 visits to the hospital for behavioral assessments behavioral and EEG (brain activity measurements), and 3) 12-15 weekly virtual intervention session

Research Contact downsyndrome.research@childrens.harvard.edu or 617-919-6435.

Full description

Research has shown that early targeted behavior interventions have been linked to improved outcomes in cognitive and behavioral functioning for children with Down syndrome. This study will build off JASPER interventions that have already been shown to successfully improve outcomes in toddlers with diagnosed Autism Spectrum Disorder (ASD) and a wide range of developmental abilities. JASPER is individualized and modified based on a child’s skills and behavior. Therefore, it is expected that it may be a particularly effective intervention for children with Down syndrome who have varying levels of developmental skills and social engagement. Developmental outcomes for this study will be measured using behavioral assessments, parent surveys, and electrophysiological (EEG) methods.