Impact of Cognitive or Sensory Impairment on the Child and Family



Impact of Cognitive or Sensory Impairment on the Child and Family


Marilyn J. Hockenberry




Cognitive Impairment


General Concepts


Cognitive impairment (CI) is a general term that encompasses any type of mental difficulty or deficiency. In this chapter the term is used synonymously with intellectual disability and replaces the term mental retardation (MR), defined by the American Association on Intellectual and Developmental Disabilities (AAIDD, 2010). Although the needs and concerns of the family are a primary focus throughout the chapter, readers are encouraged to review Chapter 36, which details the family’s adjustment to disabilities in general.


The definition of intellectual disability in children consists of three components: intellectual functioning, functional strengths and weaknesses, and age younger than 18 years at time of diagnosis. Intellectual functioning is measured by the intelligence quotient (IQ) of 70 to 75 or below. The child with an intellectual disability must demonstrate functional impairment in at least 2 of 10 different adaptive skill areas: communication, self-care, home living, social skills, leisure, health and safety, self-direction, functional academics, community use, and work (American Psychiatric Association, 2013) or have deficits in one or more adaptive domains (AAIDD, 2010). The classification system by the AAIDD allows for identification of the individual’s specific needs in four established dimensions of care (Box 37-1). Careful evaluation to identify the needs of individuals with CI is focused on promoting habilitation for each person. It is anticipated that the functional capabilities of children with CI will improve over time when support is provided.




Diagnosis and Classification


The diagnosis of CI is usually made after a period of suspicion, by professionals or the family, that the child’s developmental progress is delayed. In some cases it is confirmed at birth because of recognition of distinct syndromes such as Down syndrome and fetal alcohol syndrome. At the other extreme the diagnosis is made when problems such as speech delays arouse concern. In all cases a high index of suspicion for developmental delay and behavioral signs (Box 37-2) is necessary for early diagnosis; routine developmental screening can help in early identification (see Chapter 29). Delays are typically seen in gross and fine motor and speech development, although the latter is most predictive. Developmental delay can be described as any significant lag in a child’s physical, cognitive, behavioral, emotional, or social development when compared against developmental norms. CI is a permanent impairment encompassing cognitive ability and adaptive behavior that are functioning significantly below average (see Box 37-2). In the absence of clear-cut evidence of CI, it is more appropriate to use a diagnosis of developmental delay.



Results of standardized tests are used in making the diagnosis of intellectual disability based on cognitive deficits. Tests for assessing adaptive behaviors include the Vineland Social Maturity Scale and the American Association of Mental Retardation (AAMR) Adaptive Behavior Scale. Informal appraisal of adaptive behavior may be made by those fully acquainted with the child (e.g., teachers, parents, other care providers). Frequently these observations lead parents to seek evaluation of the child’s development.


A more useful approach for clinical application is classification based on educational potential or symptom severity. For educational purposes the mildly impaired group (educable MR) constitutes about 85% of all people with CI, and the group with moderate levels of CI (trainable MR) accounts for about 10% of the intellectually disabled population (American Psychiatric Association, 2000; Katz and Lazcano-Ponce, 2008; Walker and Johnson, 2006) (Table 37-1). Although nurses may be familiar with the approximate range of IQ for classifying severity, they should refrain from using numbers as the criterion for assessing or evaluating the child’s abilities because numbers are of little value in counseling parents or training these children.



TABLE 37-1


CLASSIFICATION OF COGNITIVE IMPAIRMENT






























LEVEL (IQ)* PRESCHOOL (BIRTH–5 YEARS)—MATURATION AND DEVELOPMENT SCHOOL AGE (6-21 YEARS)—TRAINING AND EDUCATION ADULT (≥21 YEARS)—SOCIAL AND VOCATIONAL ADEQUACY
Mild—50-55 to ≈70-75 Often not noticed as delayed by casual observer but is slower to walk, feed self, and talk than most children; follows same sequence in development as normal children Can acquire practical skills and useful reading and arithmetic to a third- to sixth-grade level with special education; can be guided toward social conformity; achieves mental age of 8-12 years Can usually achieve social and vocational skills adequate to self-maintenance; may need occasional guidance and support when under unusual social or economic stress; can adjust to marriage but not childrearing
Moderate—35-40 to 50-55 Noticeable delays in motor development, especially in speech; responds to training in various self-help activities Can learn simple communication, elementary health and safety habits, and simple manual skills; does not progress in functional reading or arithmetic; achieves mental age of 3-7 years Can perform simple tasks under sheltered conditions; participates in simple recreation; travels alone in familiar places; usually incapable of self-maintenance
Severe—20-25 to 35-40 Marked delay in motor development; little or no communication skills; may respond to training in elementary self-care (e.g., self-feeding) Usually walks, barring specific disability; has some understanding of speech and some response; can profit from systematic habit training; achieves mental age of toddler Can conform to daily routines and repetitive activities; needs continuing direction and supervision in protective environment
Profound—below 20-25 Gross delay; minimum capacity for functioning in sensorimotor areas; needs total care Obvious delays in all areas of development; shows basic emotional responses; may respond to skillful training in use of legs, hands, and jaws; needs close supervision; achieves mental age of young infant May walk; needs complete custodial care; has primitive speech; usually benefits from regular physical activity


image


IQ, intelligence quotient.


*Data from American Psychiatric Association: Diagnostic and statistical manual of mental disorders (DSM-5), ed 5, Washington, DC, 2013, The Association; and Rittey CD: Learning difficulties: what the neurologist needs to know, J Neurol Neurosurg Psychiatry 74(suppl 1):30–36, 2005.



Etiology


The causes of severe CI are primarily genetic, biochemical, and infectious. Although the etiology is unknown in most cases, familial, social, environmental, and organic causes may predominate. Among individuals with CI, a sizable proportion of the cases are linked to Down syndrome, fragile X syndrome, or fetal alcohol syndrome. General categories of events that may lead to CI include the following (Katz and Lazcano-Ponce, 2008; Walker and Johnson, 2006):



• Infection and intoxication such as congenital rubella, syphilis, maternal drug consumption (e.g., fetal alcohol syndrome), chronic lead ingestion, or kernicterus


• Trauma or physical agent (i.e., injury to the brain experienced during the prenatal, perinatal, or postnatal period)


• Inadequate nutrition and metabolic disorders such as phenylketonuria or congenital hypothyroidism


• Gross postnatal brain disease such as neurofibromatosis and tuberous sclerosis


• Unknown prenatal influence, including cerebral and cranial malformations such as microcephaly and hydrocephalus


• Chromosome abnormalities resulting from radiation, viruses, chemicals, parental age, and genetic mutations such as Down syndrome and fragile X syndrome


• Gestational disorders, including prematurity, low birth weight, and postmaturity


• Psychiatric disorders that have their onset during the child’s developmental period up to age 18 years such as autism spectrum disorders (ASDs)


• Environmental influences, including evidence of a deprived environment associated with a history of intellectual disability among parents and siblings



Nursing Care of Children with Impaired Cognitive Function


Nurses play a major role in identifying children with CI. In the newborn and early infancy periods few signs are present, with the exception of Down syndrome (see p. 1090). However, after this age delayed developmental milestones are the major clues to CI. In addition, nurses must have a high index of suspicion for early behavior patterns that may suggest CI (see Box 37-2). Parental concerns such as delayed development compared with siblings need to be taken seriously. All children should receive regular developmental assessment, and the nurse is often the person responsible for performing such assessments (see Chapter 29). When delays are found, the nurse must use sensitivity and discretion in revealing this finding to parents.



Educate Child and Family


To teach children with CI, it is necessary to investigate their learning abilities and deficits. This is important for the nurse who may be involved in a home care program or caring for the child in a health care setting. The nurse who understands how these children learn can teach them basic skills or prepare them for various health-related procedures effectively.


Children with CI have a marked deficit in their ability to discriminate between two or more stimuli because of difficulty in recognizing the relevance of specific cues. However, these children can learn to discriminate if the cues are presented in an exaggerated, concrete form and if all extraneous stimuli are eliminated. For example, the use of colors to emphasize visual cues or the use of singing or rhymes to stress auditory cues can help them learn. Their deficit in discrimination also implies that concrete ideas are learned much more effectively than abstract ideas. Therefore demonstration is preferable to verbal explanation, and learning should be directed toward mastering a skill rather than understanding the scientific principles underlying a procedure.


Another cognitive deficit is in short-term memory. Children of average intelligence can remember several words, numbers, or directions at one time; children with CI are less able to do so. Therefore they need simple, one-step directions. Learning through a step-by-step process requires a task analysis in which each task is separated into its necessary components and each step is taught completely before proceeding to the next activity.


One critical area of learning that has had a tremendous impact on education for cognitively impaired individuals is motivation. Programs based on the motivational principles of behavior modification, using positive reinforcement for specific tasks or behaviors, have demonstrated marked improvement in children’s ability to learn. Advances in technology have greatly aided in providing reinforcement, especially in children with severe disabilities and who may have physical disabilities that limit their range of capabilities. For example, with the use of specially designed switches, children are given control of some event in the environment such as turning on the television (Fig. 37-1). The television picture becomes the reinforcement for activating the switch. Repetitive use of these switches provides an early, simplistic association with a technical device that may progress to increasingly complex aids.



Early-intervention program is a systematic program of therapy, exercises, and activities designed to address developmental delays in disabled children to help achieve their full potential (American Academy of Pediatrics [AAP] Committee on Genetics, 2001; National Down Syndrome Society, 2011a; Weijerman and de Winter, 2010). Considerable evidence indicates that these programs are valuable for cognitively impaired children. Nurses working with these families need to be aware of the types of programs in their community. Under the Individuals with Disabilities Education Act (IDEA) of 1990 (Public Law 101-476), states are encouraged to provide full early-intervention services and are required to provide educational opportunities for all children with disabilities from birth to 21 years of age. Services may be provided under state Programs for Children with Special Health Needs or Head Start or by private organizations such as National Down Syndrome Society,* Easter Seals, or the Arc of the United States. Parents should inquire about these programs by contacting the appropriate agencies. The child’s education should begin as soon as possible. As children grow older, their education should be directed toward vocational training that prepares them for as independent a lifestyle as possible within their scope of abilities.



Teach Child Self-Care Skills


When a child with CI is born, parents need help in promoting normal developmental skills that are almost automatically learned by other children. These include self-care skills such as feeding, toileting, dressing, and grooming. Teaching these skills requires a basic knowledge of the developmental sequence in learning the skills demonstrated by children of average intelligence. For example, children with subaverage intelligence would not be expected to dress themselves as early as unaffected youngsters.


Teaching self-care skills also necessitates a working knowledge of the individual steps needed to master a skill. For example, before beginning a self-feeding program, the nurse performs a task analysis. After a task analysis the child is observed in a particular situation such as eating to determine what skills the child possesses and his or her developmental readiness to learn the task. Family members are included in this process because their “readiness” is as important as the child’s. Numerous self-help aids are available to facilitate independence and can help eliminate some of the difficulties of learning such as using a plate with suction cups to prevent accidental spills.§




Promote Child’s Optimal Development


Optimal development involves more than achieving independence. It requires appropriate guidance for establishing acceptable social behavior and personal feelings of self-esteem, worth, and security. These attributes are not simply learned through a stimulation program. Rather they must arise from the genuine love and caring that exist among family members. However, families need guidance in providing an environment that fosters optimal development. Often the nurse can provide this help.


Another important area for promoting optimal development and self-esteem is ensuring the child’s physical well-being. Any congenital defects such as cardiac, gastrointestinal, or orthopedic anomalies should be repaired. Plastic surgery may be considered when the child’s appearance can be improved substantially. Dental health is significant, and orthodontic and restorative procedures can improve facial appearance immensely.



Encourage Play and Exercise


Children who are cognitively impaired have the same needs for recreation and exercise as other children. However, because of the children’s slower development, parents may be less aware of these needs. Therefore the nurse guides parents toward selection of suitable play and exercise activities (Fig. 37-2). Because play has been discussed for children in each age-group in earlier chapters, only the exceptions are presented here.



The type of play is based on the child’s developmental age, although the need for sensorimotor play may be prolonged for several years. Parents should use every opportunity to expose the child to as many different sounds, sights, and sensations as possible. Appropriate play includes musical mobiles, stuffed toys, water play, floating toys, a rocking chair or horse, a swing, bells, and rattles. The child should be taken on outings such as trips to the grocery store or shopping center; other people should be encouraged to visit in the home; and the child should be related to directly such as by cuddling, holding, rocking, talking to him or her in the en face (face-to-face) position, and giving “rides” on the parents’ shoulders.


Toys are selected for their recreational and educational value. For example, a large inflatable beach ball is a good water toy; it encourages interactive play and can be used to learn motor skills such as balance, rocking, kicking, and throwing. A doll with removable clothes and different types of closures can help the child learn dressing skills. Musical toys that mimic animal sounds or respond with social phrases are excellent ways of encouraging speech. Toys should be simple in design so the child can learn to manipulate them without help. For children with severe cognitive and physical impairment, electronic switches can be used to allow them to operate toys (Fig. 37-3).



Suitable activities for physical activity are based on the child’s size, coordination, physical fitness and maturity, motivation, and health (Fig. 37-4). Some children may have physical problems that prevent participation in certain sports such as atlantoaxial instability in children with Down syndrome (see p. 1090). These children often have greater success in individual and dual sports than in team sports and enjoy themselves most with children of the same developmental level. The Special Olympics* provides these children with a unique competitive opportunity.



Safety is a major consideration in selecting recreational and exercise activities. For example, toys that may be appropriate developmentally may present dangers to a child who is strong enough to break them or use them incorrectly.



Provide Means of Communication


Verbal skills typically are delayed more than other physical skills. Speech requires hearing and interpretation (receptive skills) and facial muscle coordination (expressive skills). Because both types of skills may be impaired, these children need frequent audiometric testing and should be fitted with hearing aids if indicated. In addition, they may need help to learn to control their facial muscles. For example, some children may need tongue exercises to correct the tongue thrust or gentle reminders to keep the lips closed.


Nonverbal communication may be appropriate for some of these children, and various devices are available. For the child without associated physical disabilities a talking picture board is helpful. For children with physical limitations several adaptations or types of communication devices are available to facilitate selection of the appropriate picture or word (Fig. 37-5). Some children may be taught sign language or Blissymbols (i.e., a highly stylized system of graphic symbols representing words, ideas, and concepts). Although the symbols require education to learn their meaning, no reading skill is needed. The symbols are usually arranged on a board, and the person points or uses some type of selector to convey a message.





Encourage Socialization


Acquiring social skills is a complex task, as is learning self-care procedures. Active rehearsals with role-playing and practice sessions and positive reinforcement for desired behavior have been the most successful approaches. Parents should be encouraged early to teach their child socially acceptable behavior: waving goodbye, saying “hello” and “thank you,” responding to his or her name, greeting visitors, and sitting modestly. The teaching of socially acceptable sexual behavior is especially important to minimize sexual exploitation. Parents also need to expose the child to strangers so he or she can practice manners because there is no automatic transfer of learning from one situation to another.


Dressing and grooming are also important aspects of socialization. A child who is dressed in age-appropriate clothing and well groomed is much more likely to be accepted and develop positive self-esteem. Clothes should be clean, up-to-date, and well fitted. Many attractive outfits can be adapted with self-adhering fasteners and elastic openings to facilitate self-dressing.


As soon as possible parents should enroll the child in appropriate preschool programs. Not only do these programs provide education and training, but they also offer an opportunity for social experiences among the children. As children grow older, they should have peer experiences similar to those of other children, including group outings, sports, and organized activities such as scouts and Special Olympics. Nurses can assess the child’s abilities and encourage others (e.g., parents, teachers) to promote developmentally appropriate peer interaction (Johnson and Walker, 2006; National Down Syndrome Society, 2011a; Shapiro and Batshaw, 2007).



Provide Information on Sexuality


Adolescence may be a particularly difficult time for the family, especially in terms of the child’s sexual behavior, possibility of pregnancy, future plans to marry, and ability to be independent. Frequently little anticipatory guidance has been offered parents to prepare the child for physical and sexual maturation. The nurse can help in this area by providing parents with information about sex education that is geared to the child’s developmental level. For example, adolescent girls need a simple explanation of menstruation and instructions on personal hygiene during the menstrual cycle.


These adolescents also need practical sexual information regarding anatomy, physical development, and conception.* Because of their easy persuasion and lack of judgment, they need a well-defined, concrete code of conduct. The subtleties of social sexual behavior are less beneficial than specific instructions for handling certain situations. For example, an adolescent should be told firmly never to go alone anywhere with any person that he or she does not know well. To protect him or her from abusive sexual activities, parents must observe their teenager’s activities and associates closely. The question of contraceptive protection for these adolescents is often a parental concern.


Parents of these adolescents are often concerned about the advisability of marriage between two individuals with intellectual disabilities. There is no conclusive answer; each situation must be judged individually. In some instances marriage is possible, but parenthood may not be desirable because of the complexity of childrearing and the potential problem of perpetuating mental deficiency. The nurse should discuss this topic with parents and with the prospective couple, stressing suitable living accommodations and contraceptive methods to prevent pregnancy. If children are conceived, these parents require specialized help to learn to meet the needs of their offspring (Johnson and Walker, 2006).




Care for Child During Hospitalization


Caring for the child during hospitalization can be a special challenge. Frequently nurses are unfamiliar with children who are cognitively impaired, and they may cope with their feelings of insecurity and fear by ignoring or isolating the child. Not only is this approach nonsupportive, but it may also be destructive for the child’s sense of self-esteem and optimal development, and it may hamper the parents’ ability to cope with the stress of the experience. One method that successfully avoids this nontherapeutic approach is the use of the mutual-participation model in planning the child’s care. Parents are encouraged to stay with their child but should not be made to feel as if the responsibility is theirs alone.


When the child is admitted, a detailed history is taken (see Chapter 29), especially in terms of all self-care activity. During the interview the child’s developmental age is assessed. It is best to avoid asking directly about IQ levels because this may make the parents uncomfortable and often tells little about the child’s actual abilities. Questions are approached positively. For example, rather than asking, “Is your child toilet trained yet?” the nurse may state, “Tell me about your child’s toileting habits.” The assessment should also focus on any special devices the child uses, effective measures of limit setting, unusual or favorite routines, and any behaviors that may require intervention. If the parent states that the child engages in self-injurious activities (e.g., head banging, self-biting), the nurse should inquire about events that precipitate them and techniques (e.g., distraction, medication) that the parents use to manage them (Johnson and Walker, 2006; Oliver and Richards, 2010).


The nurse also assesses the child’s functional level of eating and playing; ability to express needs verbally; progress in toilet training; and relationship with objects, toys, and other children. The child is encouraged to be as independent as possible in the hospital.


Realizing that the child may be lonely in the hospital, the nurse makes certain that toys and other activities are provided. The child is placed in a room with other children of approximately the same developmental age, preferably a room with only two beds to avoid overstimulation. The nurse discusses with the other parents the child’s abilities and introduces the parents and children to one another. By the nurse’s example of treating the child with dignity and respect, others who may fear what they do not understand are encouraged to accept the child.


Procedures are explained to the child through methods of communication that are at the appropriate cognitive level. Generally explanations should be simple, short, and concrete, emphasizing what the child will experience physically. Demonstration either through actual practice or with visual aids is always preferable to verbal explanation. The nurse repeats instructions often and evaluates the child’s understanding by asking questions such as, “What will it feel like?” “Show me how you must lie,” or “Where will the dressing be?” Parents are included in preprocedural teaching for their own learning and to help the nurse learn effective methods of communicating with the child.


During hospitalization the nurse should also focus on growth-promoting experiences for the child. For example, hospitalization may be an excellent opportunity to emphasize to parents abilities that the child does have but has not had the opportunity to practice such as self-dressing. It may also be an opportunity for social experiences with peers, group play, or new educational and recreational activities. For example, one child who had the habit of screaming and kicking demonstrated a definite decrease in these behaviors after he learned to pound pegs and use a punching bag. Through social services the parents may become aware of specialized programs for the child. Hospitalization may also offer parents a respite from everyday care responsibilities and an opportunity to discuss their feelings with a concerned professional.



Assist in Measures to Prevent Cognitive Impairment


Besides having a responsibility to families with a child with CI, nurses also need to be involved in programs aimed at preventing CI. Many of the familial, social, and environmental factors known to cause mild impairment are preventable. Counseling and education can reduce or eliminate such factors (e.g., poor nutrition, cigarette smoking, chemical abuse), which increase the risk of prematurity and intrauterine growth restriction. Interventions are directed toward improving maternal health by educating women regarding the dangers of chemicals, including prenatal alcohol exposure, which affects organogenesis; craniofacial development; and cognitive ability (Defendi, 2010; Wilton and Plane, 2006). Other preventive strategies that play an important role include adequate prenatal care; optimal medical care of high-risk newborns; rubella immunization; genetic counseling and prenatal screening, especially in terms of Down or fragile X syndrome; use of folic acid supplements to prevent neural tube defects during pregnancy and the childbearing years; newborn screening for treatable inborn errors of metabolism such as congenital hypothyroidism, phenylketonuria, and galactosemia; and early appropriate therapies and rehabilitation services for children with developmental disabilities.



Down Syndrome


Down syndrome is the most common chromosome abnormality of a generalized syndrome, occurring in one in 691 to 1000 live births (National Down Syndrome Society, 2011b; Weijerman and de Winter, 2010). It occurs in people of all races and economic levels.



Etiology


The cause of Down syndrome is not known, but evidence from cytogenetic and epidemiologic studies supports the concept of multiple causality. Approximately 95% of all cases of Down syndrome are attributable to an extra chromosome 21 (group G); thus the name nonfamilial trisomy 21 (National Down Syndrome Society, 2011b; Walker and Johnson, 2006). Although children with trisomy 21 are born to parents of all ages, there is a statistically greater risk in older women, particularly those older than 35 years of age. For example, in women 35 years of age the chance of conceiving a child with Down syndrome is about 1 in 350 live births, but in women age 40 it is approximately 1 in 100. However, the majority (≈80%) of infants with Down syndrome are born to women younger than 35 years of age because younger women have higher fertility rates (National Down Syndrome Society, 2011b). Approximately 3% to 4% of the cases may be caused by translocation of chromosomes 15 and 21 or 22. This type of genetic aberration is usually hereditary and is not associated with advanced parental age. of affected people, 1% to 2% demonstrate mosaicism, which refers to a mixture of normal and abnormal cell types. The degree of cognitive and physical impairment is related to the percentage of cells with the abnormal chromosome makeup.



Diagnostic Evaluation


Down syndrome can usually be diagnosed by the clinical manifestations alone (Box 37-3 and Fig. 37-6), but a chromosome analysis should be done to confirm the genetic abnormality.



Box 37-3   Clinical Manifestations of Down Syndrome


















image


*Most common findings in modified chart (Pueschel, 1999).




Several physical problems are associated with Down syndrome. Many of these children have congenital heart malformations, the most common being septal defects. Respiratory tract infections are prevalent and, when combined with cardiac anomalies, are the chief causes of death, particularly during the first year of life. Hypotonicity of chest and abdominal muscles and dysfunction of the immune system probably predispose the child to the development of respiratory tract infection. Other physical problems include thyroid dysfunction, especially congenital hypothyroidism, and an increased incidence of leukemia.



Therapeutic Management


Although no cure exists for Down syndrome, a number of therapies such as surgery to correct serious congenital anomalies (e.g., heart defects, strabismus) are advocated. These children also benefit from evaluative echocardiography soon after birth and regular medical care. Evaluation of sight and hearing is essential; and treatment of otitis media is required to prevent auditory loss, which can influence cognitive function. Periodic testing of thyroid function is recommended, especially if growth is severely delayed. Children participating in sports that may involve stress on the head and neck such as gymnastics, diving, butterfly stroke in swimming, high jump, and soccer should be evaluated radiologically for atlantoaxial instability. Symptoms of the disorder include neck pain, weakness, and torticollis. Affected children are at risk for spinal cord compression.





Care Management





Support Family at Time of Diagnosis.

Because of the unique physical characteristics, infants with Down syndrome are usually diagnosed at birth, and parents should be informed of the diagnosis at this time. Parents usually prefer that both of them be present during the informing interview so they can support one another emotionally. They appreciate receiving reading material about the syndrome* and being referred to others such as parent groups or professional counseling for help or advice.


After parents are aware of the diagnosis, they are confronted with the crisis of losing their perfect or dream child and grieving for and accepting their reality child. Consequently the parents’ responses to the child may greatly influence decisions regarding future care. Some families willingly take the child home, whereas others consider immediate residential placement. The nurse must carefully answer questions regarding developmental potential. Institutionalization is no longer an option. For families unable or ill prepared to choose taking the newborn home, specialized foster care and adoption are other options (see Critical Thinking Case Study).




Assist Family in Preventing Physical Problems.

Many of the physical characteristics of infants with Down syndrome present nursing problems. The hypotonicity of muscles and hyperextensibility of joints complicate positioning. The limp, flaccid extremities resemble the posture of a rag doll; as a result, holding the infant is difficult and cumbersome. Sometimes parents perceive this lack of molding to their bodies as evidence of inadequate parenting. The extended body position promotes heat loss because more surface area is exposed to the environment. Parents are encouraged to swaddle or wrap the infant tightly in a blanket before picking him or her up to provide security and warmth. The nurse also discusses with parents their feelings concerning attachment to the child, emphasizing that the child’s lack of clinging or molding is a physical characteristic, not a sign of detachment or rejection.


Decreased muscle tone compromises respiratory expansion. In addition, the underdeveloped nasal bone causes a chronic problem of inadequate drainage of mucus. The constant stuffy nose forces the child to breathe by mouth, which dries the oropharyngeal membranes, increasing the susceptibility to upper respiratory tract infections. Measures to lessen these problems include clearing the nose with a bulb-type syringe, rinsing the mouth with water after feedings, increasing fluid intake, and using a cool-mist vaporizer to keep the mucous membranes moist and the secretions liquefied. Other helpful measures include changing the child’s position frequently, performing postural drainage with percussion if necessary, practicing good hand washing, and properly disposing of soiled articles such as tissues. If antibiotics are ordered, the nurse stresses the importance of completing the full course of therapy for successful eradication of the infection and prevention of growth of resistant organisms.


Inadequate drainage resulting in pooling of mucus in the nose also interferes with feeding. Because the child breathes by mouth, sucking for any length of time is difficult. When eating solids, the child may gag on the food because of mucus in the oropharynx. Parents are advised to clear the nose before each feeding; give small, frequent feedings; and allow opportunities for rest during mealtime.


The protruding tongue also interferes with feeding, especially of solid foods. Parents need to know that the tongue thrust is not an indication of refusal to feed but a physiologic response. They are advised to use a small but long, straight-handled spoon to push the food toward the back and side of the mouth. If food is thrust out, it should be fed again.


Dietary intake needs supervision. Decreased muscle tone affects gastric motility, predisposing the child to constipation. Dietary measures such as increased fiber and fluid promote evacuation. The child’s eating habits may need careful scrutiny to prevent obesity. Height and weight measurements should be obtained on a serial basis, especially during infancy. Because these children grow more slowly than the general pediatric population, special growth charts developed for them should be used (AAP, Committee on Genetics, 2001; National Down Syndrome Society, 2011c).


During infancy the child’s skin is pliable and soft. However, it gradually becomes rough and dry and is prone to cracking and infection. Skin care involves the use of minimum soap and application of lubricants. Lip balm is applied to the lips, especially when the child is outdoors, to prevent excessive chapping.



Assist in Prenatal Diagnosis and Genetic Counseling.

Prenatal diagnosis of Down syndrome is possible through chorionic villus sampling and amniocentesis because chromosome analysis of fetal cells can detect the presence of trisomy or translocation. However, analysis will not identify sporadic cases in young women when there is no indication for prenatal testing. Testing for low maternal serum α-fetoprotein, high chorionic gonadotropin, low unconjugated estriol levels, maternal serum fetal cell markers, and measurement of the first-trimester nuchal transparency ultrasound marker may identify an affected fetus in women, who can then undergo amniocentesis (Bahado-Singh and Argoti, 2010; Benn and Chapman, 2009; National Down Syndrome Society, 2011b).


Prenatal testing and genetic counseling should be offered to women of advanced maternal age and those who have a family history of the disorder. If prenatal testing indicates that the fetus is affected, the nurse must allow the parents to express their feelings concerning elective abortion and support their decision to terminate or proceed with the pregnancy.



Fragile X Syndrome


Fragile X syndrome is the most common inherited cause of CI and the second most common genetic cause of CI after Down syndrome. It has been described in all ethnic groups and races. The incidence of affected boys is one in 3600; the incidence of affected girls is one in 4000 to 6000; the incidence of carrier girls is one in 100 to 260; and the incidence of carrier boys is one in 250 to 800 worldwide (Hagerman, 2008; National Fragile X Foundation, 2010).


The syndrome is caused by an abnormal gene on the lower end of the long arm of the X chromosome. Chromosome analysis may demonstrate a fragile site (a region that fails to condense during mitosis and is characterized by a nonstaining gap or narrowing) in the cells of affected males and females and in carrier females. This fragile site is caused by a gene mutation that results in excessive repeats of nucleotide in a specific deoxyribonucleic acid (DNA) segment of the X chromosome. The number of repeats in a normal individual is between 6 and 50. An individual with 50 to 200 base-pair repeats is said to have a permutation and therefore is a carrier. When passed from a parent to a child, these base-pair repeats can expand from 200 or more, which is termed a full mutation. This expansion occurs only when a carrier mother passes the mutation to her offspring; it does not occur when a carrier father passes the mutation to his daughters.


The inheritance pattern has been termed X-linked dominant with reduced penetrance. This is in distinct contrast to the classic X-linked recessive pattern in which all carrier females are normal, all affected males have symptoms of the disorder, and no males are carriers. Consequently genetic counseling of affected families is more complex than that for families with a classic X-linked disorder such as hemophilia. Prenatal diagnosis of the fragile X gene mutation is now possible with direct DNA testing in a family with an established history using amniocentesis or chorionic villus sampling (National Fragile X Foundation, 2010). Both affected sexes are capable of transmitting the fragile X disorder.



Clinical Manifestations


The classic trend of physical findings in adult men with fragile X syndrome consists of a long face with a prominent jaw (prognathism); large, protruding ears; and large testes (macroorchidism). However, in prepubertal children these features may be less obvious, and behavioral manifestations may initially suggest the diagnosis (Box 37-4). In carrier females the clinical manifestations vary greatly.




Therapeutic Management


Fragile X syndrome has no cure. Medical treatment may include the use of serotonin agents such as carbamazepine (Tegretol) or fluoxetine (Prozac) to control violent temper outbursts and central nervous system stimulants or clonidine (Catapres) to improve attention span and decrease hyperactivity. Protein replacement and gene therapy are treatment options that are being investigated (Kuehn, 2011).


All affected children require referral to early-intervention program (speech and language therapy, occupational therapy, and special education assistance) and multidisciplinary assessment, including cardiology, neurology, and orthopedic anomalies.





Sensory Impairment


Hearing Impairment


Hearing impairment is one of the most common disabilities in the United States. An estimated one to six per 1000 well infants have hearing loss of varying degrees (AAP Task Force on Newborn and Infant Hearing, 1999; Gifford, Holmes, and Bernstein, 2009). For infants admitted to neonatal intensive care units, the incidence rises sharply to approximately 2 to 4 per 100 neonates (AAP Task Force on Newborn and Infant Hearing, 1999). In the United States there are about 1 million children with hearing impairment ranging in age from birth to 21 years, and almost one third of these children have other disabilities such as visual or cognitive deficits.



Definition and Classification


Hearing impairment is a general term indicating disability that may range in severity from slight to profound hearing loss. Slight-to–moderately severe hearing loss describes a person who has residual hearing sufficient to enable successful processing of linguistic information through audition, generally with the use of a hearing aid. Severe-to–profound hearing loss describes a person whose hearing disability precludes successful processing of linguistic information through audition with or without a hearing aid. Hearing-impaired persons who are speech impaired tend not to have a physical speech defect other than that caused by the inability to hear.


Hearing defects may be classified according to etiology, pathology, or symptom severity. Each is important in terms of treatment, possible prevention, and rehabilitation.



Etiology


Hearing loss may be caused by a number of prenatal and postnatal conditions. These include a family history of childhood hearing impairment, anatomic malformations of the head or neck, low birth weight, severe perinatal asphyxia, perinatal infection (cytomegalovirus, rubella, herpes, syphilis, toxoplasmosis, bacterial meningitis), chronic ear infection, cerebral palsy, Down syndrome, prolonged neonatal oxygen supplementation or administration of ototoxic drugs (Botelho, Bouzada, de Resende, et al., 2010; Haddad, 2007; Robertson, Howarth, Bork, et al., 2009; Weijerman and de Winter, 2010).


In addition, high-risk neonates who survive formerly fatal prenatal or perinatal conditions may be susceptible to hearing loss from the disorder or its treatment. For example, sensorineural hearing loss may be a result of continuous humming noises or high noise levels associated with incubators, oxygen hoods, or intensive care units, especially when combined with the use of potentially ototoxic antibiotics.


Environmental noise is a special concern. Sounds loud enough to damage sensitive hair cells of the inner ear can produce irreversible hearing loss. Very loud, brief noise such as gunfire can cause immediate, severe, and permanent loss of hearing. Longer exposure to less intense but still hazardous sounds such as loud persistent music via headphones, sound systems, concerts, or industrial noises may also produce hearing loss (Daniel, 2007; Henderson, Testa, and Hartnick, 2011). Loud noises combined with toxic substances such as smoking or secondhand smoke produce a synergistic effect on hearing that causes hearing loss (Fabry, Davila, Arheart, et al., 2011; Mohammadi, Mazhari, Mehrparvar, et al., 2009).

Only gold members can continue reading. Log In or Register to continue

Sep 16, 2016 | Posted by in NURSING | Comments Off on Impact of Cognitive or Sensory Impairment on the Child and Family

Full access? Get Clinical Tree

Get Clinical Tree app for offline access