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).

FIGURE 12-1 Child with arthrogryposis. (From Zitelli BJ, Davis HW: *Atlas of pediatric physical diagnosis,* ed 5, St. Louis, 2007, Mosby.)

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.

CASE Study

Courtney is a 4-year-old girl, who has a large vocabulary. Her arms and legs have a tubular shape; the skin between her fingers and in the folds of her knees and elbows is webbed. During the first 2 years of life, Courtney could not sit on the ﬂoor to play because she could not bend her hips and knees, and her feet turned in so much that the soles faced each other (i.e., she had clubbed feet). To get from place to place, she rolled along the ﬂoor using the normal movement of her trunk. Her shoulders and forearms turned inward, so the backs of her hands always touched her sides. She currently cannot bend her elbows, and her wrists are permanently bent toward her forearms. She has limited and weak finger movement. The palms of her hands are narrow and almost fold together.

Courtney had surgery at the age of 2 years to repair clubbed feet to enable her to place the soles of her feet on the ﬂoor. Before the surgery, she used to stand on the sides of her feet; after the surgery, she can stand for short periods, but she still cannot get to a standing position without help. To keep her legs stable while standing, she wears braces on her knees and ankles. Seated at a table of the right height, Courtney can move toys that are moderately sized and not too heavy. She grasps small things by pressing them between the backs of her wrists.

Courtney has been receiving occupational and physical therapies since birth. OT intervention consists of performing ROM, stretching, and play activities to maintain and improve Courtney’s movement for all activities. The OT practitioner has provided Courtney’s parents with home programs of fun activities to promote social interaction and play; has integrated stretching activities into the morning dressing routine so as to not overwhelm the parents; and has fabricated wrist extenstion orthoses to encourage functional wrist and hand positioning. The OT practitioner has also provided soft fabric bands to help Courtney keep her elbows flexed (and not outstretched) for 10 to 15 minutes at a time.

CLINICAL Pearl

Parents of a newborn with arthrogryposis have a lot to learn in a short period. Functional gains are made only in the early months of the infant’s life. To maintain the gains in joint movement made during therapy, a clearly written home program should be created so that the parents can have easy-to-follow guidelines. The program should include specific exercises, precautions, and a clearly written orthotic-wearing schedule.

CLINICAL Pearl

A dynamic elbow ﬂexion orthosis for an infant with arthrogryposis can be made with elastic and orthoplast. The elbow straightens against the pull of the elastic; the elastic then pulls the elbow into ﬂexion, allowing hand-to-mouth movement. The dynamic elbow ﬂexion orthosis allows infants to do activities such as eating finger food or blowing bubbles.

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).

BOX 12-3 Rules of Joint Protection for Children With Juvenile Rheumatoid Arthritis

• If the joints are warm and swollen, encourage the children to use them carefully during all activities and to continue to do range-of-motion (ROM) exercises as much as they can.

• Because tired muscles cannot protect the joints, teach the children that they should not remain in the same position, such as holding a pencil to write, for long periods without stretching or taking a break.

• Larger muscles are found around the big joints, so teach the children the correct way to use the big joints for heavy work. For example, they can balance a lunch tray on their forearms, wear a backpack on both shoulders, or carry a purse over a shoulder rather than in a hand.

• If the children become tired or are in pain, stop the activity.

• Proper positioning prevents contractures and deformities. Teach the children that they should always use good posture.

TABLE 12-1

Three Types of Juvenile Rheumatoid Arthritis

TYPE	LIMB INVOLVEMENT	FUNCTIONAL IMPLICATIONS
PAUCIARTICULAR (FEW JOINTS)
Affects four or fewer joints Comprises approximately 40% of JRA cases	Only a few unmatched joints are affected. Leg joints are usually affected, but elbows can also be affected. Children often recover in 1–2 yr. Children can develop an eye inﬂammation called iritis, which can lead to blindness unless it is treated early.	Pain and joint stiffness may limit activities. Contractures can develop. Orthoses may be needed. Work simplification may be necessary. Adaptive equipment may be needed. Climbing stairs may be difficult.
Polyarticular (Many Joints)
Comprises approximately 30% of JRA cases Five or more joints affected Girls more commonly affected than boys	Symmetrical joints of legs, wrists, hands, and sometimes the neck are affected.	Onset is fast. Functional implications are the same as those for pauciarticular arthritis but also include the following: Activities can be limited by fatigue. There is difficulty with fine motor activities.
Still’s Disease
Affects joints as well as internal organs Comprises approximately 20% of JRA cases	Speed of onset and affected limbs are the same as those for polyarticular arthritis. Other organs, for example, the spleen and lymph system, may also be affected. Bone damage may affect growth.	Functional implications are the same as those for polyarticular arthritis but also include the following: Rash and fever may develop, last for weeks, and require bed confinement.

JRA, juvenile rheumatoid arthritis.

Data from Rogers, S. Common conditions that influence children’s participation. In Case-Smith J, O’Brien J: Occupational therapy for children, ed 6, St. Louis, 2010, Mosby, pp. 153-154.Arthritis Foundation: http://www.arthritis.org/disease-center.php?disease_id=38&df=effects : Accessed June 14, 2010. .

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).

BOX 12-4 Intervention for Juvenile Rheumatoid Arthritis

• Orthoses to prevent development of contractures

• AROM and PROM exercises to maintain ROM

• Careful monitoring of each joint to maintain functional level and to prevent deformity

• Providing exercises to maintain or increase strength

• Teaching the importance of joint protection during all activities to prevent deformities or contractures

AROM, active range of motion; PROM, passive range of motion; ROM, range of motion

CASE Study

Five-year-old Amber, a cheerful child in the kindergarten, loves riding her bike. Amber has pauciarticular arthritis, a type of JRA, and as a result her joints periodically become painful, hot, and swollen. The OT practitioner provides Amber with a home program of passive and active stretching and strengthening activities and suggests that Amber do these activities right before playing outside or riding her bike. The OT practitioner stresses that stretching will help Amber ride more easily and without getting injured. The OT practitioner has measured all of Amber’s joints with a goniometer to ensure that Amber`s ROM is not deteriorating and has adapted her bicycle to include built-up handle bars, making it easier for Amber to grasp them without causing damage to her wrist and finger joints.

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.

CLINICAL Pearl

With proper joint management, children can be placed in prone or supine standers for weight-bearing activities. Standing is good not only for bone growth and strengthening but also for body functions such as circulation and digestion.

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).

FIGURE 12-2 A spica cast. (From Leifer G: *Introduction to maternity and pediatric nursing,* ed 5, 2006, Philadelphia: Saunders.)

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

TABLE 12-2

Types of Congenital Upper Extremity Amputations

TYPE OF DEFICIENCY	MISSING SKELETAL PARTS
TRANSVERSE AMELIA
Forequarter amputation	All or most of the arm is missing from the shoulder and below.
TRANSVERSE HEMIMELIA
Below-elbow amputation	All of the arm is missing from the elbow and below.
LONGITUDINAL HEMIMELIA
Partial amputation	One of the long bones of the forearm is missing. Fingers or thumb may or may not be missing.
PHOCOMELIA
	Bones of the upper or lower arm are missing. All or part of the hand remains.

Data adapted from Rothstein JM, Roy HR, Wolf SL: The rehabilitation specialist’s handbook, ed 2, Philadelphia, 1998, FA Davis.

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.

CASE Study

Beth was born with an above-elbow amputation. The occupational therapist completed a developmental evaluation at 3 months and determined that Beth was achieving all her developmental milestones. The attending physician, occupational therapist, physical therapist, and social worker discussed the pros and cons of a prosthesis with Beth’s parents. The team explained that most children with congenital upper extremity amputations choose to use a prosthesis as a tool some of the time, but they learn adaptive techniques for performing many activities without it. Very young children often use the sensations in their stumps to learn about their environments. The OT practitioner provided the parents with some informational books as well as the phone numbers of other parents who had children with congenital upper extremity amputations; the OT practitioner suggested that Beth’s parents spend some time talking to those with experience raising a child with an upper extremity amputation.

Beth’s parents decided to wait to have her fitted with a prosthesis until she was 2 years of age because she could then begin to understand its use as a tool. They also thought that at 2 years her language skills would make it easier for her to learn to use the prosthesis. They felt that Beth would gradually learn when to do things with or without the prosthesis.

Beth’s first prosthesis had a rubber mitt and a friction elbow that did not lock. Later, an adept hand, which was made of plastic and had one C-shaped “finger” with an indentation in which the end for the opposing “thumb” could be fit, was added. The adept hand would remain open until Beth chose to close it by pulling on a cable attached to a shoulder harness.

Beth is now 7 years old. She has had two surgeries to the end of the bone in her stump. Every year she has a prosthesis revision, and small details are added or changed. Now that she is older, Beth’s parents include her in the decisions for changes. The family has learned that Beth usually knows what works for her better than anyone on her treatment team. Whenever a change is made, the OTA spends a few OT sessions with Beth exploring the new uses and operation of the updated prosthesis. During these sessions, the occupational therapist and the OTA work closely together; Beth’s training requires specific understanding of the ways in which the components of the prosthesis work and function.

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.

BOX 12-5 Care of the Residual Limb and Prosthesis

• Decreased skin surface may result in overheating.

• Bandages must be dry and must be monitored.

• Examine the stump site for excessive redness, irritation, or swelling when the prosthesis is removed each night.

• Report any discomfort, redness, or pressure areas to the occupational therapist immediately.

• Wash the residual limb daily with soap and water, rinse, and dry carefully. Do not soak it.

• Cleanse the residual limb at night, ensuring enough time for it to dry thoroughly.

• Do not shave or apply lotions or moisturizers to the residual limb.

• Check the correct fitting of the prosthesis, and make sure that there are no pressure areas.

• Change the stump socks daily, and wash them by hand using mild soap and water.

• Keep the leather parts, liners, and webbing of the prosthesis clean and dry. Inspect for wear.

• Check the mechanical parts or components frequently.

NSW Artificial Limb Service: Care of the residual limb and prosthesis. Adapted from http://www.monash.edu.au/rehabtech/pub/reports/CAREOFPR.PDF Retrieved June 14, 2010.

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.

CLINICAL Pearl

To avoid causing fractures, use care when handling and doing range-of-motion (ROM) exercises with severely affected, inactive children. Maintaining good joint mobility with daily careful passive stretching and proper positioning initiated during infancy helps control osteoporosis.

Soft tissue injuries

Soft tissue injuries involve damage to muscles, nerves, skin, and/or connective tissue and include contusions, crush injuries, dislocations, and sprains. A contusion is an injury that does not disrupt the integrity of the skin and is characterized by swelling, discoloration, and pain. In the absence of any complicating health conditions, contusions heal with time and do not require medical or therapeutic intervention.

A crush wound or injury is a break in the external surface of the bone caused by severe force applied against tissues (e.g., a finger caught in a door). This type of injury may require medical or OT intervention if alignment and immobility are necessary for the injury to heal. Untreated crush injuries may result in permanent deformity and pain of the joint(s) involved. The permanent misalignment of a body structure may have functional implications.

A dislocation is the displacement of a bone from its normal articulation at a joint. Dislocations of the shoulder and hip joints are frequently seen in infants and young children, since these joints are freely movable. The shallowness of the shoulder joint increases the likelihood of dislocation occurring at this structure.

A sprain is a traumatic injury to the tendons, muscles, or ligaments around a joint and is characterized by pain, swelling, and discoloration. Sprains can occur when children or adolescents lose their balance and consequently use a protective response that makes the wrist and ankle the most vulnerable joints for injury. Sprains are most frequently seen in the ankles and wrists. Most do not require emergency medical attention or OT intervention.

CLINICAL Pearl

Immediately apply ice to a soft tissue injury for a minimum of 20 minutes or until the area becomes pain free. The application of ice will reduce swelling at the involved site and relieve pain.

Fractures

Fractures are breaks, ruptures, or cracks in bone or cartilage. They may be defined as closed or open. A closed fracture has no open wounds from the broken bone penetrating the skin, whereas an open fracture involves an open wound, where complications are more common. Fractures require immediate realignment followed by immobilization to allow the bone(s) to heal. Immobilization requires casts, orthoses, pins, or other external fixations.

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.

TABLE 12-3

Orthopedic Conditions: General Intervention Considerations

CONSIDERATION	DEFINITION AND EXAMPLE(S)
Promotion of proper joint alignment	Through static (nonmovement) and dynamic (movement) orthotic devices, facilitating the typical alignment of muscles and joints. (Note: In the absence of soft tissue contracture and/or bony deformities)
Application modalities such as ice or moist heat	Placing a moist heat pack or ice pack on the inflamed area
Immobilization with a cast or orthosis	Keeping the involved area in proper alignment
Instruction in proper positioning to reduce edema or swelling	Elevating the involved/inflamed area to increase flow of body fluids back to the trunk
Compensation	Helping the child engage in occupations through changing the ways or techniques used to participate
Modification/adaptation	Helping the child participate in occupations by changing how the activities are performed
Emotional/psychosocial consideration	Addressing emotional/psychosocial issues associated with disorders. Children may need to work on developing a positive self-concept, body awareness, and sense of control
Social participation	Promoting social participation in children

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:

• Helping children engage in all areas of occupation (e.g., play, ADLs, education, social participation, IADLs)

• Developing home programs to facilitate engagement in occupations that can easily be integrated into the child’s and family’s daily activities

• Providing passive or active stretching exercises to improve ROM for occupations. This may be accomplished through activities, orthoses, or casting. OT practitioners may design orthoses to help with the alignment of joints. Clinicians frequently consult with orthopedists to explore the functional outcome of the orthotic, or procedure

• Providing work simplification/joint protection techniques to rest inflamed joints and to protect joints

• Adapting equipment to compensate for limited ROM or congenital anomalies

• Providing compensatory techniques to allow children to succeed by performing their occupations differently

• Remediation to strengthen muscles and stability around the joints

Genetic conditions

Inherited pediatric health conditions occur in response to changes in the genetic makeup of the fetus. Humans have 23 pairs of chromosomes, which are tiny thread-shaped structures found in each cell of the body. Each chromosome is made up of tiny sections called genes. Half of the genetic information (genome) comes from the mother through her egg, and the other half of the genome comes from the father through the sperm. The offspring’s genome is unique to the individual and determines every aspect of a person’s characteristics (phenotype or the physical expression of the genotype). Because so many genes (23 pairs of chromosomes per cell multiplied by 250 to 2000 genes per chromosome) and mutations are possible, genetic disorders occur. Sometimes a gene carrying a specific problem can be passed from one or both parents to the child. Problems develop when genes mix and match improperly or mutate (i.e., a gene that has been damaged or is abnormal in some way). Genetic conditions cause characteristic physical features involving body structures and patterns of involvement in body functions that have an impact on one’s successful performance in occupations. An understanding of certain genetic conditions helps OT practitioners design and implement interventions.

Approximately 30% of developmental disabilities are related to genetic conditions; 50% of major hearing and vision problems are caused by genetic syndromes.¹² The descriptions that follow highlight genetic conditions commonly encountered in OT practice. Table 12-4 and Box 12-6 provide an overview of other selected genetic disorders and the signs and symptoms or genetic disorders.

BOX 12-6 Genetic and Chromosomal Disorders: Signs and Symptoms

• Developmental delays

• Microencephaly

• Impaired cognitive development

• Unusual or excessive eating habits or patterns

• Small body structure

• Congenital anomalies

• Facial features characteristic of syndrome

• Simian crease in hands (characteristic of Down syndrome)

• Failure to thrive

TABLE 12-4

Selected Genetic Conditions

CONDITION AND GENETIC CAUSE	INCIDENCE	COMMON SYMPTOMS AND SIGNS	FUNCTIONAL IMPLICATIONS
TUBEROUS SCLEROSIS
Autosomal dominant gene or mutation	1 in 20,000 births¹⁶	Very mild to severe symptoms Tumors in brain; can cause seizures, intellectual disability, delayed language skills, and motor problems, which is rare Tumors in heart, kidneys, eyes, or other organs; can (but may not) cause problems	Possible learning disabilities Possible aggressive or hyperactive behavior Possible inability to speak and need for alternative communication Possible severe delays in gross and fine motor skills Mild to severe delays in self-help skill
ANGELMAN SYNDROME
Deletion of chromosome 15 from mother¹⁰	1 in 25,000¹³	Tremors and jerky gait Developmental delays Severe language impairment; nonverbal or severe speech delay Very happy mood (happy puppet syndrome) Possible seizure disorder	Microencephaly Gross and fine motor delays, delayed walking skills Severely delayed self-care skills Inability to speak but possible use of alternative communication Sleep disorders (can be very disruptive to family life) Severe sensory processing problems Behavior problems such as biting, hair pulling, stubbornness, and screaming
PRADER-WILLI SYNDROME
Deletion of chromosome 15 from father¹⁹	1 in 15,000¹⁹	Growth failure related to poor suck–swallow reﬂex in infancy Obsessed with food, possibly causing obesity (parents must lock all kitchen cabinets as a precaution; the child may eat anything) Developmental delays, low intelligence Hypotonia and poor reﬂexes Speech problems related to hypotonia Laid-back attitude but possible stubbornness and violent tantrums Severe stress on families resulting from behavior problems	Obsession with eating (can be dangerous during treatment) Gross and fine motor delays Delayed development of self-help skills Difficulty walking resulting from obesity or low muscle tone May need alternative communication Possible benefits from prevocational and vocational training
RETT SYNDROME
Genetic but undetermined¹⁴	Seen only in girls	Normal or nearly normal development during first 6–18 mo of life Loss of skills and functional use of hands beginning at approximately 18 mo Loss or severely impaired ability to speak Development of repetitive, almost constant hand movements such as hand washing and wringing, clapping, and mouthing Shakiness in trunk and limbs Unsteady, wide-based, stiff-legged walking	Gross and fine motor problems Lacking or delayed self-help skills Difficulty walking or inability to walk Delayed response to requests, possibly taking up to 2 min to respond Possible need for alternative communication
FRAGILE X SYNDROME
Mutation on X chromosome (most common genetic disease in humans)¹¹	1 in 2000 males and1 in 4000 females¹	Boys more severely affected than girls Possible hyperactivity Low muscle tone Sensory processing problems involving touch and sound Possible autistic behavior Language delays (more common in boys); possible dysfunctional speech Intelligence problems ranging from learning disabilities to severe intellectual disability	Mobility problems; delayed walking skills Gross and fine motor delays Delayed development of self-help skills Possible learning problems ranging from learning disabilities and ADD to intellectual disability Possible need for alternative communication in boys (unusual for girls) Possible benefits from prevocational and vocational training

ADD, attention deficit disorder.

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.

BOX 12-7 Progression of Functional Losses in Children with Duchenne Muscular Dystrophy

Level 1

Initially independent but has progressive functional losses over a period of several years; for example, walks independently but then loses stair-climbing ability and needs leg braces to walk and assistance to get up from a chair

Level 2

In wheelchair: sits erect and is able to roll chair and perform ADLs such as upper extremity dressing, eating, and brushing the teeth in bed or chair

Level 3

In wheelchair: sits erect but is unable to perform ADLs in bed or chair, such as placing equipment conveniently or rolling over without assistance

Level 4

In wheelchair: sits erect with support and can do minimum ADLs such as brushing teeth or eating with adapted equipment

Level 5

In bed: can do no ADLs without assistance

ADLs, activities of daily living.

Adapted from Rothstein JM, Roy HR, Wolf SL: The rehabilitation specialist’s handbook, ed 2, Philadelphia, 1998, FA Davis.

CASE Study

Kevin has Duchenne MD. He is in Grade 2 in a regular class. When seated at his desk, he looks like the rest of the students in the class, even though his arms and legs look chubby. He is bright, but he has trouble keeping up with his classmates. He struggles to write, and his handwriting is hard to read. Of late, when he needs to get his pencil, he walks his fingers across the desk. It is hard for him to raise his hand to get the teacher’s attention or to get his books out of his desk. When the class goes to other parts of the school for gym or music, Kevin can easily be spotted by his waddling gait. He has lordosis (see Figure 12-3); to keep from falling forward, he carries his shoulders and head back. His gait looks like a slow march because he has to pick his feet up high so that his toes do not drag. He falls a lot. To rise from the sitting position, he “walks” his hands up his legs (Gowers’ sign).

The OT practitioner works with Kevin at school on a weekly basis and provides his teacher with suggestions to help meet Kevin’s classroom needs. For example, the OT practitioner has suggested that Kevin start using a computer for his written work, sit at a larger table, and have all his books within easy reach. The OT practitioner monitors Kevin’s needs for adaptive equipment. Because Kevin’s ability to move has decreased, the practitioner has provided Kevin’s family with some ROM exercises that will help him keep his joints loose, which, in turn, will make it easier for the caregiver to dress and bathe him. The OT practitioner has taught Kevin’s family members about proper body positioning to prevent contractures or scoliosis (see Figure 12-3). Finally, the OT practitioner has given Kevin a list of strengthening exercises that will help him function independently for as long as possible. (By the age of 9 years, most children with Duchenne MD need to use a wheelchair at least part of the time).

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).

BOX 12-8 Physical Characteristics of Down Syndrome

• Shortened limbs and fingers

• Slanted skin fold over nasal corners of eyes

• Small mouth; protruding tongue

• Straight line across palm of hand (simian line)

• Heart defects (congenital, high incidence)

• Intellectual disability (usually mild or moderate)

• Atloaxoid instability (important factor for children who engage in sports); can cause quadriplegia after minor neck injuries

• Floppy muscle tone

• Hyperextensibility of hips, limbs, and fingers

• Sensory processing problems

• Diffuse tactile discrimination difficulties

• Tactile sensitivity

• Gravitational insecurity

• Hyperactive postrotary nystagmus

• Poor bilateral motor coordination

• Changes in developmental reﬂexes in infants (caused by altered sensory processing)

• Reduced suck reﬂex

• Increased gag reﬂex (eventually resulting in food selectivity or intolerance and chewing problems)

• Diminished palmar grasp reﬂex

• Prolonged and exaggerated startle reﬂex

• Prolonged ﬂexor withdrawal and avoidance reactions in hands and feet

• Delayed placing response in hands and feet

• Lack of primary standing or air response *

• Poor optical righting

• Poor body-on-body righting delayed equilibrium responses, particularly in quadruped and standing positions

^*Normally, when infants’ feet touch a supporting surface, they support their body weight against the surface with their feet. Infants with Down syndrome pull their feet away from the supporting surface.

Data from Crepeau EB, Neistadt ME, editors: Willard and Spackman’s occupational therapy, ed 6, Philadelphia, 1998, JB Lippincott–Raven.

CLINICAL Pearl

Children who have Down syndrome often tongue thrust (i.e., force tongue forward) when eating. Placing food to the sides of the mouth helps them control this forward movement. Caregivers should be encouraged to place small spoonfuls of food to the side of the mouth or 2/3^rd of the way into the mouth (on the tongue) with slight pressure to encourage lip closure.

CASE Study

Dennis, 15 years old, has Down syndrome. When he was 12 years old, the OTA gave him a prevocational assessment at the occupational therapist’s request. The occupational therapist and the OTA together developed a plan of care to improve Dennis’s prevocational skills through vocational readiness classes at school. Dennis now works at a local grocery store two half-days a week as part of the vocational training program. His short, stubby fingers and hands move slowly when he carefully sorts and places items in grocery sacks. His tongue sometimes protrudes, and it seems large for his mouth. His face is full and round. Behind his glasses is a fold of skin on either side of his nose. Dennis is about 5 feet 6 inches tall. His chest is round. When he pushes grocery carts to customers’ cars, he walks with a wider base of support and his feet roll in. He politely chats with the customers he helps. Dennis is a confident young man and seems to enjoy his work.

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 .

CLINICAL Pearl

During clinical practice, two children who had the medical diagnosis of cri du chat syndrome were encountered by one of the authors of this chapter. Both children tended to have low muscle tone, feeding issues, behavioral problems, and significant cognitive limitations.

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

CLINICAL Pearl

To avoid excessive weight gain and obesity in children and adolescents who have Prader-Willi syndrome, a strict diet and eating schedule must be established and maintained.

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.

TABLE 12-5

Genetic and Chromosomal Disorders: General Intervention Considerations

CONSIDERATION	DEFINITION AND EXAMPLE(S)
Failure to thrive	Many genetic disorders have associated feeding difficulties. These may be due to motor, cognitive, or structural functions. The OT practitioner should evaluate and treat them through training, compensation, adaptive technology, or remediation.
Developmental delays	Many genetic disorders have associated delays in motor, social, language, and self-care skills. OT practitioners can help children learn the skills needed for their occupations through intervention.
Cognitive delays	Lower cognitive abilities are frequently a part of genetic disorders. Children may learn skills at a slower rate and may show difficulty in problem solving and with abstract thought and reasoning. Practicing occupations in a variety of contexts helps children generalize skills.
Congenital anomalies	Children with genetic disorders may exhibit certain physical features (short stature, flat hand arches) which interfere with motor skills. OT practitioners can help them compensate or adapt to perform occupations.
Psychosocial/emotional issues	Children with genetic disorders also experience a range of emotional and psychological issues. OT practitioners can help them cope with everyday situations, deal with periods of stress, adapt to life changes, and work with their strengths.
Social participation/behaviors	OT practitioners work with children, families, and communities to help the children engage in occupations. Children with all levels of ability benefit from social participation. OT practitioners can assist them in fitting into groups by helping them develop socially appropriate behaviors.