3C Autism Program

Phelan-McDermid Syndrome – Autismul inteles altfel What is Phelan-McDermid Syndrome? Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes developmental and speech delays, behavioral problems and a weakened or no ability to feel pain or sweat. Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders.What Causes PMS?PMS is caused by a mutation (change) or deletion of theSHANK gene (piece of genetic material). In most cases, PMS happens at random. It is not anyone’s fault.How Can a Person Develop PMS? There are 4 different ways that a person can develop PMS:

    Simple deletion. This is the most common type of PMS. It is when a piece of chromosome 22 (piece of genetic material) on the SHANK gene gets lost. This usually happens at random.

    Ring chromosome. This is when chromosome 22 on the SHANK3 gene forms a circle instead of the typical X-shape.

    Unbalanced translocation. This can happen when parents do not know that one or both parents carry the chromosome for
PMS.

Mutation in the DNA sequence (order) of the SHANK3 gene. This usually happens at random.What Are the Signs of PMS? Most children with PMS show signs in early childhood. Other children show signs as early as their first 6 months of life. Signs can be different in every person with PMS.PMS signs can affect development, behavior and physical appearance.Development

    Developmental delays, such as delayed sitting up, rolling over, walking or talking

    Delayed or absent speech

    Autism spectrum disorder (ASD, or a condition that causes problems with communication, behavior and social skills)

Behavior

    Repetitive behaviors, such as hand flapping

    Anxiety or nervousness

    Sleep and/or seizure disorders

    Some lower ability to sweat, which can lead to overheating

    Lower sensation or expression of pain

Physical appearance

    Hypotonia (low muscle tone)

    Long head shape with full or puffy cheeks

    Puffy or droopy eyelids with long eyelashes

    Wide, flat nose or face with a pointed chin

    Large hands

    Underdeveloped toenails

Rev. 5/2018. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.

Created by Andrey Cojocaru
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