Genetic Disorders

What is it?

A genetic disorder is caused by a mutation or change in the DNA sequence. It can be caused by:
– A mutation on one gene.
– Chromosomal disorders, where chromosomes are missing, deleted or changed, which can be inherited or sporadic (no family history)
– Complex disorders where there is a combination of gene mutations and environmental factors that play a role.

What are the symptoms?

There are many different types of genetic disorders, each with features of their own. The following list includes features that might suggest that your child has a genetic disorder. However, these characteristics are also commonly found in people without a disorder. You’ll want to check with your pediatrician if your child has at least two of the following features:
– Ear abnormalities
– Unusually shaped eyes
– Different colored eyes
– Brittle or sparse hair
– Excessive body hair
– White patches of hair
– Large or small tongue
– Misshapen teeth
– Missing or extra teeth
– Loose or stiff joints
– Unusually tall or short stature
– Webbed fingers or toes
– Excessive skin
– Unusual birthmarks
– Unusual body odor
– Shortness of breath
– Trouble feeding and gaining weight in infants
– Excessive sweatiness
– Abnormal facial features or multiple organ system involvement

Some of the commonly seen genetic disorders include:
– Prader-Willi Syndrome
– Williams Syndrome
– Down Syndrome
– Noonan Syndrome
– Angelman Syndrome
– Kabuki Syndrome
– CHARGE syndrome
– Cornelia deLange Syndrome
– Cri du Chat Syndrome
– Microcephaly
– Duchenne Muscular Dystrophy
– Spinal Muscular Atrophy
– Tay Sachs
– Cystic Fibrosis

This is not by any means an exhaustive list and in this advanced age of genome testing many new and obscure genetic disorders are being discovered.

In some but not all genetic disorders there are issues that affect movement. Some genetic disorders include hypotonia, ataxia, dyspraxia, muscle weakness, spasticity, coordination, problems with suck and/or swallow, sensory processing disorders, learning difficulties, problems with communication and delayed acquisition of motor milestones. When genetic disorders include these types of symptoms the child can benefit from physical, occupational and/or speech therapy depending on which of these issues the child’s diagnosis includes.

How is it treated?

These disorders cannot be cured. However, treatment can focus on specific strategies to manage the associated signs and symptoms of the disorder.

Physical Therapists will work on improving gross motor coordination, muscle strength and endurance, range of motion, balance and coordination skills, acquisition of functional skills, and modification of environment to enhance the child’s ability to function at home, school and the community. If needed the physical therapist will also assist the family in determining what, if any, adaptive equipment is required.

Occupational therapists will expand their abilities by broadening the range of skill areas. They will work on developing the underlying skills to support gross motor and fine motor control. These skills affect movement and alertness, fine motor control, activities of daily living, body awareness and motor planning skills. In addition, they will work on social stories and social skills. Visual cues will be used to support and introduce new activities.

Speech Therapists will help the family to understand how the child is processing, understanding, learning and using language and communication. They will give the families communication strategies and help the child understand the environment, routines and language. They will help develop language and conversation skills. They will help the parents and family understand the child’s ability to express their needs, wants, thoughts and ideas to help organize and plan the routine for the day.

A pediatric therapist helps a young child at pediatric therapy center