Communication abilities in children with genetic conditions

***UPDATE FEB 2025 - RECRUITMENT FOR THIS STUDY HAS NOW CLOSED***

About the study

Families will be offered a £25.00 voucher for taking part, or equivalent in US dollars.

Who can take part?

What does taking part involve?

Download the study information sheets

Research Team

About the study

Speech and communication are affected in many genetic conditions. Differences in speech and communication are associated with symptoms such as learning difficulties, movement problems or epilepsy.

In recent years, many new genetic conditions have been identified. How they affect speech and communication has not been formally studied. This study will research, in detail, a range speech and communication abilities in children who have been diagnosed with a genetic condition.

Families will be offered a £25.00 voucher for taking part, or equivalent in US dollars.

Who can take part?

You can take part in the study if :

You are a parent/caregiver of a child diagnosed with a genetic condition. The study is currently open to families of children with differences in the following genes: ARID1B, SETD5, SOX11, MYT1L, ANKRD11 (KBG), MED13L, TRIP12, ADNP, SYNGAP1, DYRK1A, KMT2A, KMT2D, and EP300.
Your child is able to engage in some form of communicative behaviour (e.g., vocalisations, body movements, facial expressions)
Your child is aged 2 years – 15 years 11 months old
Your child has regular exposure to English Language (e.g., at school or at home)
If using words to communicate, your child uses English regularly

What does taking part involve?

Taking part in the study involves three phases:

Phase 1: Parent questionnaires

We will invite parents/caregivers of a child with a genetic condition to complete three online questionnaires about their child’s medical history, day-to-day functioning and communication abilities. These questionnaires will take about 45 minutes and can be completed online or via video call with a researcher if you prefer.

Phase 2: Child Assessments

We will invite your child to complete several speech and language assessments via video call with a researcher. This will involve showing your child pictures and asking them to speak/ make sounds or point to the images. We will ask you (the parent/caregiver) to support your child during these sessions and attend a 5-minute briefing call with the researcher before the session so we can provide you with information and complete some technical checks. The sessions will take between 15 and 50 minutes depending on your child's age and ability and will be completed over 1 or 2 sessions (maximum 30 minute duration). The sessions will be recorded to help the researcher to record your child’s answers accurately.

Phase 3: Parent interview

If your child communicates non-verbally, or if it is not possible for your child to take part in Phase 2, we will invite you (the parent/caregiver) to complete an online interview with a researcher where we will ask you questions about your child’s communication behaviour. This interview will take approximately 1 hour and will be video recorded to help the researcher record your answers accurately.

Phase 4: Video sample

We will ask you to record and send to us a 10-minute video of your child while playing or doing an activity at home. We will analyse the video to assess your child's speech, language, and communication ability. Instructions for the video can be found here.

You/ your child do not have to take part in all phases of the study if you do not wish to. Participants will be offered a £25.00 voucher for taking part, or equivalent in US dollars.