Don C. Van Dyke

Feeding and Swallowing Dysfunction in Genetic Syndromes.

Children with genetic syndromes frequently have feeding problems and swallowing dysfunction as a result of the complex interactions between anatomical, medical, physiological, and behavioral factors. Feeding problems associated with genetic disorders may also cause feeding to be unpleasant, negative, or even painful because of choking, coughing, gagging, fatigue, or emesis, resulting in the child to stop eating and to develop behaviors that make it difficult, if not impossible, for a parent to feed their child. In addition, limited experiences with oral intake related to the medical or physical conditions, or other variables such as prematurity, often result in a failure of the childs oral motor skills to develop normally. For example, a child with Pierre Robin sequence may be unable to successfully feed orally, initially, due to micrognathia and glossoptosis. Oral-motor dysfunction may develop as a result of both anatomical problems, (e.g., cleft lip/palate), lack of experience (e.g., s/p. surgery), or oral motor abnormalities (e.g., brain malformation). Neuromotor coordination impairments such as those associated with Down syndrome (e.g., hypotonia, poor tongue control, and open mouth posture) frequently interfere with the acquisition of effective oral-motor skills and lead to feeding difficulties. Management of these phenomena is frequently possible, if an appropriate feeding plan exist that allows for three primary factors: (1) feeding program must be safe, (2) feeding program must support optimal growth, and (3) feeding program must be realistic. Researchers have demonstrated the utility of behavioral approaches in the treatment of feeding disorders, such as manipulations in the presentation of foods and drink and consequences for food refusal and acceptance (e.g., praise, extinction, contingent access to preferred foods). However, because a childs failure to eat is not frequently the result of a single cause, evaluation and treatment are typically conducted by an interdisciplinary team usually consisting of a behavioral psychologist, pediatric gastroenterologist, speech pathologist, nutrition, and sometimes other disciplines. This chapter provides an overview of some of the feeding difficulties experience by some of the more common genetic disorders including identification, interventions, and management.

Premature sexual development in individuals with neurodevelopmental disabilities

Studies on precocious puberty have primarily focused on children with typical patterns of growth and cognitive development. This study reviewed diagnostic data from the records of 15 719 patients with neurodevelopmental disabilities for diagnoses associated with premature sexual development/precocious puberty. Thirty‐two individuals with premature sexual development were identified, with the earliest changes seen in one girl at 1 year 7 months of age. In this group, the mean age at onset was 7 years 2 months in boys and 5 years 11 months in girls. Central precocious puberty, which was the most common cause of onset of early pubertal changes, was present in 15 of the 32 children. The results of this study suggest that children with a neurodevelopmental disability are at increased risk of premature pubertal changes when compared to children without a neurodevelopmental disability. This study indicates the need for health‐care providers to be vigilant in screening for early pubertal changes in children with neurodevelopmental disabilities.

Fetal Drug Exposure and Its Possible Implications for Learning in the Preschool and School-Age Population

For the past 5 years there has been an exponential increase in the use of cocaine, phenylcyclidine hydrochloride (PCP), and other central nervous system (CNS) active drugs. A significant amount of this accelerated usage is in sexually active females, resulting in some urban hospitals reporting positive drug screens in over 16% of the infants born on their busy obstetrical service. There is a growing body of data showing that fetal exposure to cocaine, phenylcyclidine hydrochloride (PCP), and other CNS-active drugs results in infants and children with abnormal brain wave patterns, short-term neurologic signs, depression of interactive behavior, and poor organizational responses to environmental stimuli. Whether such neurologic findings will translate into a significant number of children with learning and behavioral problems needs to be the focus of long-term longitudinal studies of children with fetal drug exposure to cocaine, PCP, and other CNS-active drugs.

Early identification and treatment necessary to prevent malnutrition in children and adolescents with severe disabilities

Children with severe developmental disabilities frequently have nutrition and growth problems that range from moderate to severe. Because of notable continuing medical concerns and lowered growth expectations, parents and physicians may fail to recognize gradual deterioration in nutritional status before severe medical complications occur. The two cases reported in this article illustrate the need for early identification and treatment to prevent the development of notable morbidity secondary to malnutrition. Children and adolescents who have growth parameters consistently below age norms require assessment and monitoring by a registered dietitian to detect feeding problems and intake changes and to provide early intervention to help prevent negative consequences (eg, dehydration, protein-energy malnutrition, decubitus ulcers, increased rate and duration of infections, and altered bowel motility). An initial assessment should consist of measurement of length or height, weight, triceps, and subcapsular skinfolds; dietary and feeding history and a review of medical history; and biochemical testing as indicated by the medical and dietary histories. Monitoring frequency, which is determined by age, severity of condition, and response to treatment, may vary from weekly to bimonthly.

Clinical Management Issues in Males with Sex Chromosomal Mosaicism and Discordant Phenotype/Sex Chromosomal Patterns

The recent availability of Y DNA probes has made it possible to identify two forms of 46,XX male syndrome: Y DNA positive and Y DNA negative. The Y DNA positive male results from a X;Y translocation with a low recurrence risk; the Y DNA negative males are due to a mutation with a high recurrence risk. 46,XX males and mosaic forms are phenotypically indistinguishable. A review of the case histories for 11 individuals indicates that affected males have highly variable genital and nongenital phenotypes. Physical findings may be clearly apparent or nonexistent. With the exception of external genitalia, the basis for this variability is unknown. It may be related to differences in Y chromatin expression as the result of variable inactivation of the X chromosomes, or to the existence of minor deletions or point mutations secondary to an exchange of genetic material. Common and uncommon clinical problems in these individuals require evaluation and follow-up care that is provided through a cooperative, interdisciplinary approach.

Down Syndrome Cervical Spine Abnormalities and Problems

A review of the radiographs of 34 individuals with Down syndrome (DS), between 5 and 21 years of age, demonstrated subluxation of atlantoaxial instability (C1-C2) greater than 5 mm in three of the 34 individuals (9 percent). This is in general agreement with previously reported ranges of 10 to 20 percent. A review of the cervical spine radiographs of adults with DS, between 26 and 42 years of age, showed no subluxation but significant degenerative changes of the cervical spine with spur formation, narrowing of foramina, narrowing of the disc inner space, and osteophyte formation. In both the DS child and the DS adult, the cervical spine may be an area of significant potential problems. In all cases any complaints of cervical pain or historical/clinical findings suggestive of neurologic involvement should initiate evaluation of the cervical spine. Baseline radiographic studies of the cervical spine are indicated in all DS children older than 5 years of age and should be considered in all DS adults, particularly those 30 years of age and older.

Constipation in Young Children with Developmental Disabilities

Constipation is a common problem for children with disabilities. The inability of children with disabilities to communicate abdominal discomfort or pain with stooling may impair the ability to diagnose constipation. The causes of constipation may vary with the type of disability. The type and degree of disability also has an impact on treatment modalities. Constipation may have many adverse consequences, including behavioral problems, poor feeding, pain, rectal bleeding, the social stigma and emotional stress associated with incontinence, as well as potentially serious problems such as megacolon and bowel obstruction. Identification and treatment of constipation in children with disabilities is, therefore, of high importance.

Fusiform Bacterial Sepsis Metastases with Osteomyelitis and Hepatic Abscess Occurring in a Chaotic Family

Cases of fusiform bacteria sepsis have been reported infrequently in the pediatric literature. This case demonstrates the severe metastatic complications of fusiform bacterial sepsis including osteomyelitis, with multiple pathological fractures, sepsis, and abscesses of the liver. In the diagnostic evaluation of the etiology for this uncommon infection, child abuse was discovered in all children of this family. In children with uncommon infections and no underlying etiology, child abuse should be considered.

Children with Special Health Care Needs and Managed Care

care providers and other care coordinators as well as promotion of preventive health care.2 Other potential advantages may include a reduction in paperwork and lower out-of-pocket expenses for families, simplified access to care, and more nearly adequate protection against catastrophic illness.2 In this issue, Grossman et al survey families of children with special health care needs who receive SSI and Medicaid benefits and who are voluntarily enrolled in a managed care program.3 Survey parameters include care quality, family satisfaction with care, and ease of access to care. This study provides a rarely heard perspective on the outcomes of managed care, for patient satisfaction surveys seldom include individuals with chronic conditions or their families. Families responding to this survey generally rated the quality of health care as improved; they reported a decreased number of

Observations in Psychotropic Medication Usage in Patients With Behavior Disorders Presenting to a Specialty Clinic

In recent decades, national and international surveys have reported increased usage of psychotropic medications in children. A review of the computerized clinic records for 709 children seen in a behavioral specialty clinic from January 2001 to December 2007, inclusive, in a rural US state was completed. The number of children diagnosed with disruptive behavior disorder/behavior management issues increased over the 7-year period, but this was balanced by an increased number of referrals. The number of children referred over the 7-year period increased from 77 in 2001 to 127 in 2006, a 39% increase. The overall percentage of children on medications at time of first visit showed some variability, but it did not increase over the years 2001 to 2007. The results of this study suggest that the previously reported increase in psychotropic medication usage in pediatric patients is not consistent across all diagnostic categories or in all regions of the United States.