ADA Inspections Nationwide, LLC
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by Richard Acree of ADA Inspections Nationwide, LLC

Genetic Syndromes: Down Syndrome, Angelman Syndrome, and Prader-Willi Syndrome

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Some common genetic syndromes include Down Syndrome, Angelman Syndrome, and Prader-Willi Syndrome. This post will explain all three and begin a discussion of aging-in-place home modifications for people with genetic syndromes. A Certified Aging-in-Place Specialist (CAPS) can help with home modifications for people with genetic syndromes.

Down Syndrome is perhaps the most common genetic syndrome. According to the Center for Disease Control and Prevention (CDC), Down Syndrome is a condition in which a person is born with an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as it grows in the womb and after birth. Some common physical features of Down Syndrome include:

  • A flattened face, especially the bridge of the nose

  • Almond-shaped eyes that slant up

  • A short neck

  • Small ears

  • A tongue that tends to stick out of the mouth

  • Tiny white spots on the iris (colored part) of the eye

  • Small hands and feet

  • A single line across the palm of the hand (palmar crease)

  • Small pinky fingers that sometimes curve toward the thumb

  • Poor muscle tone or loose joints

  • Shorter in height as children and adults

According to the National Library of Medicine, Angelman Syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Common features of Angelman Syndrome are:

  • intellectual disability

  • severe speech impairment

  • seizures

  • coarse facial features

  • Scoliosis

  • hyperactivity at young ages

  • the need for less sleep

According to the National Library of Medicine, Prader-Willi Syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Later in life this condition is characterized by mild to moderate intellectual impairment and learning disabilities. Common features of Prader-Willi Syndrome are:

  • temper outbursts

  • stubbornness

  • picking at the skin

  • sleep abnormalities

  • over eating leading to obesity

  • short stature

  • small hands

According to Beyond Accessibility, home modifications can make life better for people with genetic syndromes and the people who care for vicitims of genetic syndromes. Please note that every child with a genetic syndrome and every family is different and with unique needs. Every idea does not apply to every child, family, or home. A list of home modifications does not replace having a home modification assessment for your family; nor does it replace the need for a skilled Occupational Therapist to work in-person with you and your building team. All home modifications ideas are implemented at your own risk; please use caution and judgment. Home modifications can greatly improve quality of life, but should be combined with the direct services of skilled professionals, such as therapists, doctors, and social workers.

And the needs of a genetic syndrome victim change over time. Families report having to adjust to the specific needs at each age, size, and developmental stage of their child, with a need for frequent reassessments and different modifications.

Subsequent articles will discuss home modifications specific to the different syndromes shown above.

If someone you know suffers from a genetic syndrome such as Down Syndrome, Angelman Syndrome, or Prader-Willi Syndrome, please call Richard at 615-752-0060 to discuss the needs for a home safety inspection and home modification. For more information about the services Richard provides please see Residential Accessibility.

Thank you.