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15q11-q13 duplication syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

15q11-q13 duplication syndrome

15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder caused by an extra copy of a region on chromosome 15, leading to varied signs and symptoms including poor muscle tone, intellectual disability, and a high incidence of autism spectrum disorder and seizures.

Overview

15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder; its signs and symptoms vary among affected individuals.

Poor muscle tone (hypotonia) is common in individuals with dup15q syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. Most affected children develop the ability to walk independently after age 2 or 3, and they typically have a wide-based or uncoordinated (ataxic) pattern of walking (gait). Babies with dup15q syndrome often have trouble feeding due to weak facial muscles that impair sucking and swallowing.

Intellectual disability also occurs in people with dup15q syndrome and can range from mild to profound; however, it is usually in the moderate to severe range. Speech and language development are particularly affected, with some individuals never developing functional speech. Most individuals with this disorder have autism spectrum disorder (ASD), and many have language problems associated with ASD such as repeating the words of others (echolalia) or repeating particular phrases (stereotypical utterances).

Behavioral difficulties are also associated with dup15q syndrome, including other features of ASD such as difficulty with changes in routine and problems with social interaction. Affected individuals may also experience hyperactivity, anxiety, and frustration leading to tantrums. Mood disorders and psychosis occur in some affected individuals.

More than half of people with dup15q syndrome have recurrent seizures (epilepsy). The seizures usually develop between the ages of 6 months and 9 years. Some people with dup15q syndrome have only focal seizures, which affect one part of the brain and usually do not cause a loss of consciousness. In other affected individuals, seizures begin with a type called infantile spasms (seizures that usually appear before the age of 1 and involve recurrent muscle contractions) and later include other types of seizures. In addition to focal seizures, these can include rapid uncontrolled muscle

Frequently Asked Questions

multidisciplinary approach is most effective. This often includes physical therapy for hypotonia and motor skill development, occupational therapy for daily living skills, speech and language therapy (as many individuals have significant communication difficulties), and behavioral therapy to address autism spectrum disorder features, hyperactivity, anxiety, and tantrums.
Establishing consistent routines and a predictable environment can help reduce anxiety and frustration. Behavioral strategies, often guided by a behavioral therapist, can be very effective in managing tantrums and other challenging behaviors. Creating a supportive and understanding environment, along with professional guidance, is key to helping individuals cope with these difficulties.
Parents may first notice poor muscle tone (hypotonia), which can lead to feeding difficulties due to weak facial muscles, and significant delays in motor skills like sitting or walking. Developmental delays, particularly in speech and language, are also common early indicators.
More than half of individuals with dup15q syndrome experience recurrent seizures. Parents should work closely with a neurologist to establish an individualized seizure management plan, which typically includes medication. It's important to recognize seizure types, know how to respond during a seizure, and understand when emergency medical attention is needed.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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