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Providing optimal care for children with developmental disorders

Garzon, Dawn Lee PhD, CPNP-BC, FAANP; Thrasher, Carrie MSN, RN; Tiernan, Kendra MSN, RN

doi: 10.1097/01.NPR.0000388205.78238.0b
Feature: PEDIATRIC CARE: CE Connection

Many NPs are not satisfied with their skill level in the management of children with developmental disorders. NPs, however, will likely encounter many children with these disorders, and need to educate themselves on how to diagnose and monitor this population.

Dawn Lee Garzon is an assistant professor at the University of Missouri–St. Louis College of Nursing. Carrie Thrasher is a graduate of the the pediatric nurse practitioner program at the University of Missouri–St. Louis College of Nursing. Kendra Tiernan is a graduate of the pediatric nurse practitioner program at the University of Missouri–St. Louis College of Nursing.

The authors have disclosed that they have no significant relationship with or financial interest in any commercial companies that pertain to this educational activity.



Developmental disorders are a group of individual conditions that result from abnormal nervous system development and cause altered function in children. Developmental disorders often present in infancy and cause delayed developmental milestones and impairment in at least one functional area, including cognition, personal-social skills, communication (speech and language, hearing, and vision), behavior, activities of daily living, and motor skills (gross or fine).1,2 The term "global developmental delay" refers to impaired function in more than one of these areas. The net result is that individuals with developmental disorders often have impaired quality of life secondary to altered educational, occupational, and social experiences.1

Recent evidence suggests the prevalence of developmental and behavioral disorders in the United States is 13.2%.3

Epidemiologic studies of pervasive developmental disorder (autism spectrum disorder), one subtype of the developmental disorders, indicate a prevalence of approximately 30 per 10,000 births.4 Therefore, primary care providers (PCPs) who work with children and adolescents commonly care for children and families affected with these conditions. Unfortunately, many PCPs are dissatisfied with their comfort and skills in the primary care management of children with developmental disorders. Especially challenging is understanding the modifications needed for preventive care and the management of complications and comorbidities.5 This may be due to inconsistencies in terms, such as developmental disorder versus child and youth with special healthcare needs, and because there are dozens of disorders that fall under the developmental disorder diagnostic cluster. However, medical home-care providers are essential to the evaluation and diagnosis of developmental delay, and are instrumental in the management of the comorbidities associated with developmental disorders.6 Healthcare practitioners who work with children and adolescents should understand the complexities inherent to the care of children with developmental disorders and implement concrete strategies to improve communication with children, adolescents, and families.

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Identification of children with developmental disorders

The American Academy of Pediatrics' (AAP) policy related to the identification of infants and young children with developmental disorders calls for the routine incorporation of developmental surveillance at all well-child visits with special emphasis placed on the 9-, 18-, and 30-month visits (the policy is available online at It includes an algorithm that details primary care developmental surveillance and includes recommendations for follow-up, evaluation, and referral.

Proper diagnosis of a developmental disorder takes time and should use a multidisciplinary approach. Primary care evaluation should focus on the confirmation and classification of delay type in terms of functional domain (motor, cognition, communication, personal-social skills, behavior, or activities of daily living) and investigation of possible causes of the delay through a complete physical exam, thorough history (comprehensive, episodic, and interval), and diagnostic tools and lab testing (see Expected development and developmental "Red Flags"). Portions of the evaluation may necessitate a referral to a developmental specialist, such as a developmental pediatrician, neurology subspecialist, or psychiatric/mental health specialist.

Many patient-encounter guidelines used in primary care, such as the Bright Futures Guidelines for Health Supervision of Infants, Children, and Adolescents, and the Health Resources and Service Administration's Early Periodic Screening, Diagnosis and Treatment Program, include items designed to identify children with developmental disorders.8,9 The AAP's policy regarding early identification of children with developmental disorders includes a listing of the diagnostic screening tools recommended for use by the medical home provider.7 Some commonly used instruments include the Modified Checklist for Autism in Toddlers (MCHAT), the Denver-II Developmental Screening Test, the Ages and Stages Questionnaire, the Child Development Inventory, and the Parents' Evaluation of Developmental Status. With the exception of the MCHAT (available in the public domain through ), all of these instruments are proprietary and must be purchased before use in a clinical setting. Because of cost, additional training needed to administer the test, and time constraints, these instruments are not widely used in primary care settings. They are generally used in specialty care and in early childhood intervention programs.

The complete physical exam of a child who is suspected of having a developmental delay should focus on the identification of physical dysmorphisms, neurologic status, musculoskeletal coordination, height, weight, and nutritional status (see Physical findings that may indicate a developmental disorder). The neurologic exam should include head circumference, cranial nerve and deep tendon reflex evaluation, visual fields, pupillary response, fundoscopic changes, and documentation of drooling, paresis, nystagmus, dysphagia, head tilt, and dyskinesias.2

Providers must modify their approach during history taking and physical exam to account for the child's actual developmental—not chronological—age. Speak softly, avoid quick movements, and talk to the child before initiating physical contact. Many children with developmental disorders have sensory processing issues that result in difficulty with visual, tactile, or auditory input.10 It is important to leave invasive or difficult portions of the exam, such as oropharyngeal assessment and chest auscultation, for when the child is less stressed or more likely to be compliant. Be sure to allow sufficient time for the visit to address child and family needs and concerns, as anxiety related to the diagnostic process is likely to be high.

In general, lab testing for developmental disorders is not significantly different from that used for normal well-child visits.4 This evaluation includes follow-up on newborn metabolic screening, lead testing if identifiable risk factors are present, vision and hearing screening, and use of standardized diagnostic tools such as the MCHAT, when indicated.11 There is minimal diagnostic yield from routine genetic testing, thyroid screening, neuroimaging, and use of electroencephalogram.12

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Family and cultural concerns

Developmental disorders change family dynamics as well as other personal relationships. Because many conditions include altered behavior, they change the way the child interacts with others and the world around him or her. Studies indicate that parents of children with developmental disorders have increased parental role anxiety, higher grief levels, and are more likely to report negative parent-child interactions than parents without a child with developmental disorders.12,13,14 These children have increased risk of school and learning difficulties, work-related struggles, and impaired sibling relationships.15,16 It is important that PCPs assess family roles and incorporate strategies to maximize positive family functioning. Additionally, referral to First Steps, Family Voices, or other local organizations that offer information about and assistance for early intervention programs, and creating an individual education plan that provides a personalized and appropriate intellectual and social environment for school-age children are essential. This can be challenging as programs are community-based and vary from one geographic region to another; however, it is important that PCPs are aware of resources and preliminary program eligibility requirements to ensure prompt referrals.17

PCPs need to acknowledge that culture shapes parenting practices, understanding of health and illness, perceptions related to developmental disorders, and beliefs about individuals affected by these disorders. Culturally competent family care includes assessment of the family's understanding of the developmental disorder and expectations for the child. PCPs need to identify the caregivers, understand the family's decision-making processes, and acknowledge any individual who provides support to the family.16 Care must be taken to ensure that resources are culturally and linguistically appropriate (see Websites related to developmental disorders for parents and Websites related to developmental disorders for healthcare providers).18

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Managing comorbidities

There are a number of comorbidities associated with developmental disorders. These conditions arise because of complications from the underlying developmental disorder or secondary to pharmacologic and nonpharmacologic therapies. It is important that PCPs recognize the most common comorbidities to minimize the impact of these conditions and to ensure prompt referral to specialty care, when needed (see Comorbidities associated with developmental disorders). The most prevalent conditions include gastrointestinal (GI), genitourinary, sexuality and self-perception, pulmonary, and dental issues.

GI: Nutrition and growth can be challenging for children and adolescents who have altered ingestion, absorption, and excretion. Individuals with developmental disorders are significantly more likely to have impaired nutrition, primarily due to inadequate caloric intake and increased metabolic needs.19 PCPs must plot height, weight, and body mass index at each visit and carefully monitor growth trends. There are specialized growth charts for children with Down syndrome, Turner syndrome, prematurity, myelomeningocele, sickle cell anemia, and other genetic disorders.20

Impaired chewing, swallowing, and motor dysfunction can make eating challenging and may necessitate the introduction of nutritional supplementation. Gastroesophageal reflux disease, vomiting, and regurgitation increase the risk for altered nutrition, electrolyte imbalances, and pulmonary complications such as aspiration pneumonias. They also occur with greater frequency in individuals with neurodevelopmental disorders.19 Additionally, medications can cause altered GI motility and nutrient absorption. For example, antiepileptic medications can cause decreased vitamin D absorption, anorexia, and increased GI motility.19

Constipation is common in individuals with developmental disorders, especially those with neuromuscular disorders, and is exacerbated by impaired mobility and decreased abdominal muscle tone.19 This can be further complicated by stool withholding and altered toilet training.21 PCPs can manage constipation by helping families to develop realistic toilet training regimens (for example, training should not begin until the child attains the developmental abilities of a 3-year-old), treating constipation and anal fissures promptly, and counseling families about nutritional management of constipation.

Genitourinary: Genitourinary complications include structural abnormalities that cluster with genetic disorders (including renal dysplasia and hypoplasia), hypertension, renal calculi, and increased incidence of urinary tract infection.22 Altered urinary flow and vesicoureteral reflux are the primary causes of recurrent urinary tract infection in this population. This can be further complicated by constipation, altered voiding patterns, and a greater prevalence of renal calculi.22 To minimize renal scarring and adverse renal sequelae, PCPs must be able to diagnose urinary tract infections promptly. Hypertension in this population is often secondary to medication use, primary or secondary renal disorders, electrolyte imbalances, and central nervous system disorders.22 Prompt referral for management of primary and secondary causes is merited. Clonidine and beta-blockers (e.g. atenolol and propanolol) are effective in helping to control hypertension secondary to neurologic disorders and neuromuscular spasticity.22 Lastly, renal calculi can occur due to ketogenic diets, lack of weight bearing, calcium wasting, and chronic decreased water intake.23 PCPs can minimize the incidence of kidney stones and urinary tract infection by encouraging liberal intake of water and reinforcing the need to maintain hydration status.

Table. Ex

Table. Ex



Sexuality and self-perception: It is a common myth that adolescents with developmental disorders are asexual, with no sexual drives or need for sexual education.24 When identifying a patient's sexual health needs, sexuality should be defined as the combination of sex-role socialization, physical maturation, body image, social relationships, social aspirations, sex, and sexual practice.25 Individuals with developmental disorders are more likely to have altered body image and self-esteem—and they have a twofold increase in risk of sexual abuse.25,26 The primary care management of the sexual health of an individual with a developmental disorder includes surveillance for sexual abuse, assessment of self-concept, self-perception, desire for contraception, and sexual activity. Additionally, prompt referral for forensic examination and psychosocial intervention is essential if sexual abuse is suspected.

Sexual education should be provided in a developmentally appropriate manner and should stress normal sexuality and menstrual hygiene.24 Adolescents with developmental disorders require standard gynecologic care and pelvic examinations, although modifications in positioning may be necessary. These modifications include frog-leg position, V-position, M-position, or leg elevation.24 Contraception method selection should take into account a higher risk of latex allergies, an increased risk of thromboemboli from estrogen-progesterone contraceptives (in those with impaired mobility), and the implications of altered manual dexterity on the use of barrier devices.25,27 Medroxyprogesterone (Depo-Provera) is the most used contraceptive method in this population because it is administered I.M. and causes decreased or absent menses. However, patients will require monitoring for decreased bone density and increased risk of thromboembolism in those with limited mobility.24

Pulmonary issues: Individuals with developmental disorders have increased susceptibility to respiratory tract infections. This is largely due to gastroesophageal reflux disease, impaired cough and gag, and altered chest wall compliance that lead to increased risk of aspiration pneumonias and impaired airway clearance.28 Drooling poses an additional aspiration risk factor. Saliva pooling can cause choking and increase risk of dental caries.29 The use of antireflux and anticholinergic medication is common to minimize the likelihood of the above-mentioned sequelae.

Obstructive sleep apnea is a serious comorbidity of developmental disorders and is more prevalent than in the general population. This potentially life-threatening condition occurs secondary to tonsillar and adenoid hypertrophy, soft palate hypotonia, macroglossia, subglottic stenosis, laryngomalacia, tracheomalacia, and obesity.28 If excessive snoring and sleep apnea are present, prompt referrals to sleep specialists for management are needed.

Dental issues: Children with developmental disorders require specialized dental care and extra preventive strategies.28 Diet and altered chewing may result in increased contact of food with the dental enamel. Use of fruit juices and dried fruits to treat constipation can increase risk of dental caries. Altered muscle tone can make teeth brushing challenging and preclude complete tooth cleansing. Medications, such as phenytoin (Dilantin), can cause gingival hyperplasia and increase risk of periodontal disease. As a result, PCPs should routinely assess the teeth, mouth, and gums, and ensure that children with developmental disorders have a dental home by age 1 year.

Research findings have demonstrated that povidone iodine (Betadine) painting of the teeth can be done every 4 to 6 months to decrease caries incidence and is especially helpful for those who do not receive dental care or who have a past history of extensive dental caries.30

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Transition planning and care coordination

As home-care providers and home-care coordinators, PCPs have an opportunity to improve the quality of life for those with chronic or complex health conditions. The AAP states that all children should have a medical home "where health care services are accessible, family centered, continuous, comprehensive, coordinated, and compassionate."31

The transition to adulthood can be especially challenging for adolescents with developmental disorders.32 Adolescents must be educated about educational, therapeutic, and specialty care. Early planning is key, and transitioning from pediatric-care to adult-care practitioners should begin in the middle school years to facilitate care of the child from dependence to interdependence to self-reliance.33 This may require planned chronic-condition management visits in addition to regular well-child visits.32 As most PCPs do not act as sole care coordinators, it is important to know how to access specialty services, to advocate for healthcare services, to alert patients and families to the options that are available, and to incorporate specialists' recommendations into primary care.34 A written transition plan should be developed, approved, and adopted by medical team members, the patient, and his family. This plan should include recommendations for when the child presents to healthcare visits without a chaperone.33

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The primary care of children and adolescents with developmental disorders focuses on screening and early diagnosis, managing comorbidities, and assisting the child and family during transitions in care. When proactive and thorough interventions are initiated early in the child's life, more successful outcomes are reached, as well as the prevention of comorbidities commonly associated with developmental disorders.

Many PCPs express dissatisfaction with their comfort level regarding the management of developmental disorders. Yet, given the prevalence of children with developmental disorders, PCPs need to educate themselves on how to diagnose and monitor this population. PCPs should modify routine care procedures and treatments, taking into account the physical, developmental, and psychosocial needs. Positive outcomes for both the child and family are dependent on PCPs who can provide family-focused comprehensive healthcare with appropriate referrals to specialty care providers.

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Physical findings that may indicate a developmental disorder

Dermatological & Facial

  • Café-au lait spots
  • Simian crease (single palmar crease)
  • Low set ears
  • Small eyes
  • Underdeveloped philtrum
  • Flattening of the maxillary or frontal bones
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  • Macrocephaly
  • Microcephaly
  • Nystagmus
  • Delayed or brisk Deep Tendon Reflexes (DTRs)
  • Head tilt
  • Gower's sign (When changing from the sitting to the standing position, affected person stands by placing the hands on the knees and extending the trunk by using the hands to walk up the legs)
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  • Dyskenesias
    • Tremor
    • Choreas
    • Dystonia
    • Uneven movements
  • Poor manual dexterity
  • Altered gait
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  • Failure to attain developmental milestones
  • Loss of developmental milestones
  • Lack of reciprocal speech
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  • Poor eye contact
  • Perseverative behaviors
  • Excessive temper tantrums
  • Excessive aggression
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Oral & Verbal

  • Excessive drooling
  • Dysphagia
  • Poor articulation
  • Tongue thrust
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Websites related to developmental disorders for parents

Autism Spectrum Disorders Fact Sheet

The Centers for Disease Control and Prevention

Autism Spectrum Disorders (Pervasive Developmental Disorders)

The National Institute of Mental Health

Developmental Disabilities

The Centers for Disease Control and Prevention

Family Voices

An organization that supports family-centered care for children with disabilities

Maternal and Child Health Bureau: Helpful Web Sites for Families with Children with Special Heath Care Needs

The U.S. Department of Health and Human Services

Sharing Concerns: Parent to Physician

First Signs

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Websites related to developmental disorders for healthcare providers

Caring for Children With Autism Spectrum Disorders: A Resource Toolkit for Clinicians

The American Academy of Pediatrics

Developmental Screening for Health Care Providers

The Centers for Disease Control and Prevention

National Center for Medical Home Implementation

The American Academy of Pediatrics

Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for Developmental Surveillance and Screening

The American Academy of Pediatrics (Pediatrics 2006;118:405–20)

Learn the Signs. Act Early. Information for Healthcare Providers

The Centers for Disease Control and Prevention

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Comorbidities associated with developmental disorders

Gastrointestinal (GI)

  • Malnutrition- due to ingestion, absorption abnormalities
  • Gastroesophgeal Reflux Disorder (GERD)
  • Food Intolerance
  • Altered GI motility—increased or decreased
  • Nutritional deficiencies due to medications:
    • Antiepileptics- decreased vitamin D absorption
    • Diuretics-electrolytes imbalances
    • Stimulants-anorexia and decreased intake
  • Constipation
  • Vomiting and regurgitation
  • Feeding tube complications—infections, skin breakdown, and other local infections
  • Hepatitis A
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Genitourinary (GU)

  • Renal malformations associated with some genetic defects
  • Urinary tract infections
  • Hypertension—primary or secondary (stimulant medications, hormone dysfunction, central nervous system disorder)
  • Renal calculi
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Sexuality and Self Perception

  • Altered self-image
  • Low self-esteem
  • Altered pubertal development—either precocious or delayed
  • Hypogonadism
  • Menstrual disorders
  • Sexual abuse
  • Increased risk for pregnancy
  • Inadequate contraception
  • Sexual dysfunction
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  • Aspiration
  • Obstructive sleep apnea
  • Impaired airway clearance
  • Frequent upper respiratory infections
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  • Caries
  • Bruxism
  • Gingival hyperplasia
  • Impaired oral hygiene
  • Altered salivary secretion—decreased or increased
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  • Altered tone—hypotonic or hypertonic
  • Impaired mobility
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