Achondroplasia

Achondroplasia, or dwarfism, is a pathologic condition of arrested or stunted growth that occurs during fetal development. It is a disorder of the growth cartilage. Typical physical features include a large protruding forehead and short, thick arms and legs on a relatively normal trunk.

Due to their physical stature and features, children with achondroplasia may require adaptive equipment to perform daily occupations. OT practitioners may provide compensatory strategies to help these children achieve independence despite their small stature and short, yet large, hands. Frequently children with achondroplasia exhibit poor hand coordination and require OT intervention to develop hand skills for occupations. Occasionally, medical intervention might include orthopedic surgery, and the OT practitioner would address range of motion (ROM) and relearning of movements postsurgically.

Arthrogryposis

Arthrogryposis is sometimes genetic but is also attributed to reduced amniotic fluid during gestation or central nervous system (CNS) malformations.³⁹ In the classic form of arthrogryposis, all the joints of the extremities are stiff, but the spine is not affected. Shoulders are turned in, elbows are straight, and wrists are flexed, with ulnar deviation. Hips may be dislocated, and knees are straight, with the feet turned in. Arm and leg muscles are small, with webbed skin covering some or all of the joints. The condition is worse at birth, so any increases in ROM or joint motion are improvements.⁴ In typical cases, all the joints of the arms and legs are fixed in one position, partly due to muscle imbalance or lack of muscle development during gestation (Figure 12-1).

Ongoing occupational and physical therapies help children with arthrogryposis meet educational, self-care, and play needs. Children with arthrogryposis have many physical limitations that interfere with all areas of occupational performance. OT practitioners may help these children maintain or increase ROM and adapt themselves to perform their occupations and daily activities. OT practitioners may elect to use technology to help these children engage in ADLs, play, education, and social participation (see Chapter 26). Due to the multiple issues associated with arthrogryposis, OT practitioners consult with family members and school personnel to provide the best intervention. The following case example illustrates some intervention principles.

Juvenile rheumatoid arthritis

The three types of juvenile rheumatoid arthritis (JRA) are (1) Still’s disease (20% of JRA cases), (2) pauciarticular arthritis (40% of JRA cases), and (3) polyarticular arthritis (40% of JRA cases) (Table 12-1).^5,10 Children with JRA experience exacerbations and remissions of symptoms. During exacerbations, or flareups, symptoms worsen, and the joints become hot and painful; joint damage can occur. During remissions, or pain-free periods, children with JRA may resume typical activities. Joint protection techniques are encouraged at all times so that these strategies become a habit (Box 12-3).

By the time they are adults, 75% of individuals with JRA have permanent remission.¹² However, these children may have functional limitations due to contractures and deformities. The OT practitioner helps educate them on how to protect their joints, compensate for lack of ROM during exacerbations, and complete activities with less stress on the joints (work simplification techniques). Furthermore, the OT practitioner provides these children with stretching and movement activities to maintain the functioning of the joints and prevent contractures. The OT practitioner may prescribe adaptive equipment or technology to help these children engage in everyday activities (Box 12-4).

OT practitioners working with children with JRA frequently provide adaptations to activities to help these children perform activities. This may include providing built-up handles on items such as spoons or hair brushes (adaptive equipment), showing the children how to perform activities more easily (e.g., work simplification), or instructing them in an alternative method to perform an activity (e.g. using a computer instead of writing as a means of written expression).

Osteogenesis imperfecta

Osteogenesis imperfecta is a congenital condition in which bones fail to develop and are brittle. Consequently, children are prone to fractures with typical handling and movement. Children who have osteogenesis imperfecta also have secondary osteoporosis.

Osteoporosis may also be caused by a lack of weight-bearing activities such as crawling and standing. The bones are weakened as a result of mineral loss; weight-bearing activities and muscles pulling on bones during movement make bones stronger. Children who develop osteoporosis are usually severely affected by another condition, such as osteogenesis imperfecta or cerebral palsy. These children are usually very inactive and unable to stand; their bones can become so brittle that even simple activities such as dressing could cause a fracture.

OT practitioners who work with children with osteogenesis imperfecta and osteoporosis must be gentle when helping them experience play, ADLs, education, and social participation. The OT practitioner educates family, teachers, and others on how to handle the child and also educates the child on how best to move through any given space and pay attention to body positions. Weight-bearing activities help develop bone growth and should therefore be encouraged. Children with osteogenesis imperfecta may require orthoses to protect bones and prevent contractures.

Congenital hip dysplasia

Congenital hip dysplasia (or dislocation of the hip) may be caused by genetic or environmental factors. An infant may be genetically prone to instability of one or both of the hip joints, and sudden passive stretching of an unstable hip or prolonged time in a position that makes the hip vulnerable may cause a dislocation.^14,35 Medical intervention at an early age is critical to preventing permanent physical or body structure damage. Surgery may be necessary. Less invasive procedures, such as bracing and casting, may promote proper hip alignment and stability (Figure 12-2).

OT practitioners may work with infants and children who have casts to support hip alignment. Helping parents and children with daily living skills during this period involves simplifying activities and providing adaptive equipment to ensure successful engagement in activities. For example, it may be necessary to provide a bath seat in which a child can be positioned for a sponge bath. These children may need seating that is adapted to accommodate the cast. Those children who are in a full body brace will not be able to explore their environments, so the OT practitioner may adapt developmentally appropriate activities to help these children to explore.

Amputation

An infant born missing all or part of a limb has a congenital amputation. A traumatic amputation is the result of an accident, infection, or cancer. Each year, approximately 26 out of 10,000 children in the United States are born missing all or part of a limb. The types of amputations vary greatly (Table 12-2). Thumb and below-elbow amputations are the most common types of upper extremity congenital amputations.¹²

OT practitioners analyze the activities that the child with an amputation will engage in and determine how to compensate for or adapt the task so that the child can be successful. In some cases, use of technology or a prosthesis may be prescribed to help the child engage in daily activities. The OT practitioner considers the child’s age and the type of amputation and works with a team of professionals to determine the course of treatment.

Fitting a prosthesis on a child with a congenital amputation at a very young age allows the child to reach developmental milestones in a timely manner and for the prosthesis to become a part of the child’s body image. A prosthesis is more likely to be rejected when the child is older. In the case of a less severe congenital amputation, a child often does well without a prosthesis. The use of a prosthesis depends on the severity of the amputation and whether one or both arms are involved. See Box 12-5 for stump and prosthesis care.

Acquired musculoskeletal disorders

Acquired musculoskeletal disorders are conditions that are not present at birth and involve injury or trauma to the skeletal and/or muscular systems. Soft tissue injuries and fractures require the attention of an orthopedist, a medical doctor who specializes in diseases of the musculoskeletal system.

General interventions

Children with orthopedic conditions may exhibit difficulty performing ADLs, instrumental activities of daily living (IADLs), education, play, or social participation because of improper joint alignment. For example, children with achondroplasia often have difficulty grasping and manipulating objects because of their short but large hands. They benefit from practice, modification, and adaptation (Table 12-3). They may need work space modifications (e.g., adapted chairs). Furthermore, their physical stature may interfere with play. Children with JRA may develop contractures that limit their active ROM and interfere with their ability to perform play, leisure, and academic activities and ADLs. They benefit from stretching exercises and work simplification techniques.

OT practitioners help children who have orthopedic conditions engage in play, leisure, and educational activities, ADLs, IADLs, and social activities.

OT interventions for orthopedic conditions frequently involve the following:

Duchenne muscular dystrophy

One of the more common types of muscular dystrophy (MD) is Duchenne muscular dystrophy, or pseudohypertrophic (which means “false overgrowth”) MD. In children with Duchenne MD, the muscle mass breaks down and is replaced by fat and scar tissue. The buildup of fat and scar tissue can make the muscles, especially those of the calves, look unusually large. Duchenne MD is seen only in boys. About 3 individuals per 100,000 develop the condition.¹² Most children who have Duchenne MD survive until they are in their 20s, and a few live until they are in their 30s. The cause of death is usually cardiopulmonary system (heart and lung) complications that lead to pneumonia.

Sometimes parents suspect that something is wrong when their infant begins to walk on his toes around 1 year of age (Box 12-7). The diagnosis is usually made by the age of 4 years after a muscle biopsy is performed. By then the child’s calves look large and progressive weakness has begun, especially in the joints closest to the body. Scoliosis (Figure 12-3) can develop because of muscle weakness, especially during growth spurts. Proper wheelchair positioning and support are important to prevent scoliosis. Older children with Duchenne MD may have to use a ventilator, so good body alignment is important for maintaining chest capacity that is vital for breathing.

Down syndrome

One of 2000 infants born to women who are less than 40 years of age and 1 of 40 infants born to women who are more than 40 years old have Down syndrome. About 95% of the individuals with Down syndrome have an extra twenty-first chromosome. The extra chromosome comes from the father 25% to 30% of the time.¹⁰

Early intervention, including occupational, speech, physical, and developmental therapies are an important part of helping children with Down syndrome reach their full potential. Recent research indicates that early intervention, including teaching families ways to enrich their children’s environment, helps reduce developmental delays.³²

Children with Down syndrome have characteristic facial features (slanted eyes, skin fold over nasal corners of eyes, small mouth, protruding tongue), tendency for cardiac anomalies, low muscle tone throughout, intelligence deficits, and simian creases in hands See Figure 12-4. (Box 12-8).

OT intervention for children with Down syndrome focuses on helping children engage in ADLs, self-care, play, education, and social participation. Early intervention services are aimed at enhancing the child’s developmental abilities, including improving muscle tone for movement and feeding ability (decreasing tongue thrusting and promoting lip closure). Children with Down syndrome may require adaptations to participate in regular classrooms.

Cri du chat syndrome

Cri du chat syndrome (cri du chat means “cry of the cat”) is a rare genetic condition caused by the absence of part of chromosome 5. The baby or the young child with this genetic disorder has a weak, mewing cry. Classic body features documented in children with cri du chat syndrome include microencephaly; widely spaced, down-slanting eyes; cardiopulmonary abnormalities; and failure to thrive.⁹ Children with cri du chat syndrome experience intellectual deficits and developmental delays .

Fragile X syndrome

Fragile X syndrome affects boys more often than girls. Children present with limited brain development, abnormal skull, joints, and feet structures.¹⁹ They exhibit typical structural features, including elongated faces, prominent jaws and foreheads, hypermobile or lax joints, and flat feet. Children with fragile X syndrome may be intellectually delayed.

Prader-willi syndrome

Prader-Willi syndrome involves chromosome 15. Children and adolescents who have Prader-Willi syndrome exhibit varying degrees of intellectual deficits, overeating habits, and self-mutilating behaviors such as picking sores until they bleed or biting their fists until large calluses develop.²⁰

General interventions

OT practitioners working with children with genetic or chromosomal disorders address the occupational performances of these children (Table 12-5). For example, children with fragile X syndrome may have intellectual disabilities and thus will require assistance to develop ADL skills. They may require adaptations to be independent, structure to engage in leisure activities, and training to participate in work. Children and adolescents with Prader-Willi syndrome require intervention for social participation because their behaviors such as picking sores and overeating are not socially acceptable. OT practitioners may provide the families of these children with strategies to help their children function to their full potential.

The OT practitioner working with children with genetic or chromosomal disorders evaluates their abilities to perform occupations and addresses any related issues. Children with genetic disorders have physical appearances that are different from those of typically developing children, and many have associated intellectual and developmental disabilities. For example, children with Down syndrome exhibit low muscle tone interfering with movement. OT practitioners consider the specific features of the disorder when designing interventions.

OT interventions for genetic or chromosomal conditions frequently involve the following:

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