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LEARNING OBJECTIVES
Upon completion of this chapter, the reader will be able to:
Analyze the history and objective assessment to identify functional short-term and long-term goals for pediatric patients with genetic disorders.
Evaluate a child’s developmental skills to discern the appropriate interventions needed.
Create interventions to assist children with developing and progressing functional, age-appropriate skills.
Evaluate children with genetic disorders to teach family/caregivers appropriate care and home activities.
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The incidence of infants and children diagnosed with genetic disorders has increased since completion of the Human Genome Project in 2001.1 These disorders are a leading cause of infant mortality and affect approximately 3% of births in the United States.2 Many genetic disorders result in infants and toddlers exhibiting gross motor skill delay, prompting pediatricians to refer to physical therapy. As experts in movement, physical therapists (PTs) may be the first to recognize atypical developmental signs that warrant a recommendation to the referring physician for a consultation with neurology, orthopedics, and genetics.3 Once an infant or child has been diagnosed with a genetic disorder, the therapist often assists the family with digesting the medical information provided by the physicians and material the parents or caregivers discern from the Internet.4 PTs must collaborate with occupational therapists, speech-language pathologists, physicians, and genetic specialists for ongoing understanding to benefit the patients and their families.5
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A fetus receives 23 chromosomes from each parent for a total of 46 chromosomes, each of which contains genes. Chromosome pairs numbered 1 through 22 are referred to as autosomes with the remaining pair of sex-linked chromosomes consisting of XX for females and XY for males. Genetic disorders can occur for a variety of reasons either on the autosome or sex-linked chromosomes and may be either dominant or recessive. An autosomal dominant defect means that an affected chromosome or gene from only one parent causes the disorder. When the autosomal defect is recessive, both parents must carry the defect but typically do not have the disorder. Sex-linked genetic defects can be dominant or recessive as well. In an X-linked dominant disorder, females or males can have the disorder. Because males only have one X chromosome, if that one contains a recessive defect, the male will have the disorder. Figure 14-1 illustrates the inheritance patterns for X-linked genes.
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