Pervasive Developmental Disorders Pdd

Home , Developmental disorder, Not Otherwise Specified

PERVASIVE DEVELOPMENTAL DISORDERS PDD

ervasive developmental disorders (PDDs) are a group of neurobiological disorders charac- KEY FACTS terized by fundamental deficits in social ■ Two to 5 of every 10,000 individu- interaction skills or communication skills, Por by the presence of stereotyped (purposeless and als have autistic disorder (Zahner and Pauls, 1987, as cited in Volk- repetitive) behaviors, interests, or activities (Ameri- mar, 1996), but as many as 13 of can Psychiatric Association, 2000). Common features every 10,000 individuals have con- include difficulty with transitions or change, unusual ditions that may fall within the sensory interests or sensitivities, an extremely narrow and intense focus of interest, and stereotyped behav- autistic–pervasive developmental iors (e.g., hand flapping, rocking, twirling). Cognitive disorder (PDD) spectrum (Wolraich deficits or uneven skill development are often pre- et al., 1996). sent. The spectrum of symptoms can range from a ■ Approximately 75 percent of chil- limited desire or ability to interact with others to the dren and adolescents with autistic more severe symptoms seen with autistic disorder. disorder meet criteria for mental While the symptoms of autistic disorder may be retardation (MR) (American Psychi- quite evident, children and adolescents with more atric Association, 1994). subtle difficulties (e.g., those with social withdrawal problem; Asperger’s disorder, or a pervasive develop- ■ Autistic disorder is four to five times mental disorder, not otherwise specified [PDD, NOS]) more common in males than in often go undiagnosed and untreated. Missed oppor- females, but affected females are tunities for treatment can adversely affect long-term more likely than affected males to outcomes and quality of life for these children and suffer from severe MR (American adolescents and their families. Psychiatric Association, 2000). ■ No specific biological marker or pre- cise pathogenic mechanism has been identified for PDDs.

317 DESCRIPTION OF SYMPTOMS

PDD The following descriptive criteria offer a summary of the features of the spectrum of PDDs. Children with a PDD typically begin experiencing difficulties by or before age 3.

Social Withdrawal Problem (Diagnostic code: V40.3) Early Childhood Adapted from DSM-PC. Selected additional information from ■ Appears self-absorbed, preferring solitary play to DSM-PC is available in the appendix. Refer to DSM-PC for interacting with others further description. ■ May exhibit some mildly compulsive or rigid Children and adolescents differ in their ability to behaviors interact socially and in their desire to do so. Some Middle Childhood demonstrate an inability or lack of desire to interact ■ Rarely initiates peer interactions; prefers solitary with others. When this inability interferes with their play to group activities development and functioning, it qualifies as a ■ May be increasingly concerned about following problem. rules and maintaining routines Infancy Adolescence ■ May be irritable and difficult to console ■ Has few friendships; has difficulty in social ■ May exhibit repetitive behavior, such as head situations banging ■ May be viewed as a loner; is socially isolated ■ May show low levels of social responsiveness; may ■ May have eccentric hobbies and interests withdraw in the absence of persistent efforts by par- ■ Shows little concern for popular styles of dress or ents to encourage social interaction behavior

Autistic Disorder (Diagnostic code: 299.00) evident in the first 3 years of life but may present Adapted from DSM-PC and DSM-IV-TR. Selected additional differently at various developmental stages. Children information from DSM-IV-TR is available in the appendix. and adolescents with autistic disorder may be unable Refer to DSM-PC and DSM-IV/DSM-IV-TR for full psychiatric to understand that others have needs or may not be criteria and further description. (See also Table 16, p. 324.) aware of others’ feelings or distress. They may treat others as objects, tools, or mechanical aids. In The most important clinical manifestations of addition, children and adolescents with autistic autistic disorder are markedly abnormal development disorder may show impairment in their nonverbal in social interaction and communication skills, and social behaviors (e.g., lack of eye-to-eye gaze, reciprocal patterns of restrictive, repetitive, and stereotyped smiling, and affectionate contact) and in their ability behavior and interests. These manifestations are (continued on next page)

318 Description of Symptoms (continued) PDD

Autistic Disorder (continued)

to engage in symbolic or imaginative play. Their anxiety in being separated from their parents but erratic sleep patterns and aversion to certain foods may may become noticeably agitated in response to disrupt family life. Self-injurious behavior (e.g., head minor changes in their environment or routine. banging, self-biting, hair pulling) can occur in more They often display echolalia (stereotyped repetition severely affected children and adolescents. Some of another person’s words or phrases), repetitive children and adolescents with autistic disorder may motor behavior, and unusual attachments to have “islets of special abilities” (i.e., highly developed objects. As they grow older they tend not to make skills in very narrow and specific areas, such as the friends and do not exhibit social or emotional ability to decode numbers, list things from memory, or reciprocity. draw or play music exceptionally well) that contrast ■ Children commonly demonstrate delays in or total markedly with the level of their general cognitive lack of development of spoken language. functioning (Volkmar and Klin, 2000). Middle Childhood Infancy ■ Children rarely share pleasure or excitement with ■ Infants with autistic disorder may show little inter- others, and their social and vocal expressions and est in being held, or they may not be comforted by interactions are limited. physical closeness with their parents. They have significant limitations in social smiling, eye contact, Adolescence vocalization, and social play. ■ Adolescents show significant deficits in understand- ■ Infants with autistic disorder display little interest ing social expectations and have few or no friend- in the human face. ships. They may exhibit unusual affect and perseverative (persistent and repetitive), ritualistic Early Childhood speech or behaviors. ■ Children may not follow (shadow) their parents at home, preferring to be alone. They may not show

Rett’s Disorder (Diagnostic code: 299.80) and is usually associated with severe to profound mental Adapted from DSM-PC and DSM-IV-TR. Selected additional retardation (MR). Rett’s disorder is characterized by nor- information from DSM-IV-TR is available in the appendix. mal functioning through the first 5 months of life, with Refer to DSM-PC and DSM-IV/DSM-IV-TR for full psychiatric subsequent development of the following severe deficits: criteria and further description. ■ Deceleration of head growth between 5 and 48 months Rett’s disorder shares the same diagnostic code as ■ Loss of purposeful hand movements between 5 and pervasive developmental disorders, not otherwise speci- 30 months, and development of stereotyped mid- fied (PDDs, NOS) and Asperger’s disorder. This X-linked (continued on next page) dominant disorder has been reported only in females

319 Description of Symptoms (continued) PDD Rett’s Disorder (continued)

line hand movements (e.g., hand wringing, hand By age 5, MR is frequently severe. Serious medical washing) concerns include seizures, respiratory problems ■ Cessation of social engagement (including periods of apnea and hyperventilation), and ■ Poorly coordinated gait or trunk movements risk of sudden cardiac death. Motor problems and scol- ■ Severe impairments in language development, with iosis may also be present. Individuals with Rett’s disor- severe psychomotor retardation der have progressive neurodegeneration but can survive to adulthood (Volkmar and Klin, 2000).

Childhood Disintegrative Disorder (Diagnostic code: 299.10) with severe mental retardation (MR) and with an Adapted from DSM-PC and DSM-IV-TR. Selected additional increased risk of seizure disorder. information from DSM-IV-TR is available in the appendix. The majority of children and adolescents with Refer to DSM-PC and DSM-IV/DSM-IV-TR for full psychiatric childhood disintegrative disorder eventually stabilize criteria and further description. and cease to deteriorate. Occasionally, they may recov- This disorder is characterized by normal develop- er some previously attained developmental skills. A ment until at least age 2 and thereafter by progressive minority of children and adolescents with childhood loss (before age 10) of skills in communication, social disintegrative disorder have progressive neurodegener- interaction, behavior, self-help, and adaptive function- ation and die early, but most have a normal life ing. Childhood disintegrative disorder is associated expectancy (Volkmar and Klin, 2000).

Asperger’s Disorder (Diagnostic code: 299.80) ■ Restricted, repetitive, and stereotyped patterns of Adapted from DSM-PC and DSM-IV-TR. Selected additional behavior, interests, and activities ■ information from DSM-IV-TR is available in the appendix. No significant delay in language or cognitive devel- Refer to DSM-PC and DSM-IV/DSM-IV-TR for full psychiatric opment (may be cognitively high functioning), criteria and further description. adaptive skills (other than in social interactions), or curiosity about their environment Asperger’s disorder shares the same diagnostic ■ Clumsiness (in many but not all cases) code as pervasive developmental disorder, not other- Long-term outcomes of Asperger’s disorder are wise specified (PDD, NOS), but children and adoles- not well defined, but impairment in social interaction cents with Asperger’s disorder can be identified by the is believed to be a lifelong problem for individuals following symptoms: with this disorder. ■ Impaired social interaction

320 Description of Symptoms (continued) PDD

Pe rvasive Developmental Disorder Not Otherwise Specified (Diagnostic code: 299.80) ered a residual diagnostic category. Compared with Adapted from DSM-PC and DSM-IV-TR. Selected additional children and adolescents who have social withdrawal information from DSM-IV-TR is available in the appendix. problem, children and adolescents with PDD, NOS Refer to DSM-PC and DSM-IV/DSM-IV-TR for full psychiatric exhibit more extensive impairment in reciprocal social criteria and further description. interactions; such impairment is associated with impaired verbal or nonverbal communication skills A wide range of developmental patterns are cur- and/or stereotyped interests or behaviors that can rently diagnosed as pervasive developmental disorder, interfere with developmental activities. not otherwise specified (PDD, NOS), which is consid-

321 COMMONLY ASSOCIATED PROBLEMS AND DISORDERS

PDD Table 15. Comparison of Pervasive Developmental Disorder Diagnoses

Features Autistic Asperger’s Rett’s Child Disorder Disorder Disorder Disintegrative Disorder

Age at onset < 3 years, usually in Typically > 3 years; no Deceleration of head 2–10 years; normal first year delays in language growth, 5–48 development prior to and cognitive months; loss of 2 years of age development purposeful hand skills, 5–30 months

Gender 4–5 times more likely At least 5 times more Reported almost Occurs in slightly in males than in likely in males than in exclusively in females more males than females females females

Relationship to Typically mild to None Severe to profound Severe MR mental retardation profound MR; females MR (MR) likely to exhibit more severe MR

Degenerative No No Yes In most children, degeneration stabilizes; occasionally some skills regained

Seizures Occur in up to 25% No Yes Increased risk of of children and seizures adolescents; more common in adolescence

Examples of Fragile X syndrome; Chromosomal aberra- Not applicable Metachromatic associated conditions tuberous sclerosis; tions; obsessive leukodystrophy; neurofibromatosis; compulsive disorder; Schilder’s disease chromosoal depression; attention aberrations deficit hyperactivity disorder

Source: American Psychiatric Association, 2000; Klin and Volkmar, 1997.

322 Parents’ Evaluation of Developmental Status

INTERVENTIONS PDD (PEDS) (Glascoe, 1997) can provide baseline Early identification and intensive early interven- information (Filipek et al., 1999, 2000). Review- tion during early childhood result in improved out- ing family-made home videos may also be help- comes for most children with PDDs (Lovaas, 1987; ful. McEachin et al., 1993; Ozonoff and Cathcart, 1998; 2. PDDs can co-occur with a variety of medical Rogers, 1998; Sheinkopf and Siegel, 1998, as cited in conditions. In particular, autistic disorder can be Filipek et al., 2000). Interventions should be informed associated with genetic disorders such as fragile by an ongoing assessment of each child’s or adoles- X syndrome, neurofibromatosis, tuberous sclero- cent’s needs and level of functioning, as these charac- sis, and phenylketonuria. PDDs can also be con- teristics will change as the child or adolescent fused with other conditions such as schizo- develops. phrenia and syndrome of acquired aphasia with Children and adolescents with PDDs usually seizure disorder. Consider further medical evalu- require interventions from a team of professionals ation as indicated (e.g., genetic screening; neu- that can include neurologists, psychiatrists, psy- rological, auditory, and opthalmological chologists, social workers, audiologists, speech and assessments). language therapists, physical therapists, and occupational therapists (Volkmar et al., 1999). The pri- 3. If initial assessment of a child or adolescent rais- mary care health professional plays a critical role in es concerns about PDDs, refer the child or ado- coordinating services and working with the child or lescent for neuropsychological testing and adolescent and family over time to support the psychiatric evaluation of cognitive functioning, child’s or adolescent’s development and function- adaptive behavior, and social and communica- ing. The following guidelines can help the primary tive skills. care health professional identify and support chil- 4. Assess the quality of social interactions for each dren and adolescents with PDDs. child or adolescent as she develops over time, as children with subtler social withdrawal prob- Child or Adolescent lems or milder forms of a PDD may not mani- fest symptoms until they are older. 1. At health supervision visits, assess all children 5. Monitor the child or adolescent for any evi- and adolescents for developmental delays. dence of underlying psychiatric difficulties (e.g., Obtain a detailed history, including a develop- anxiety, mood disorders), especially if behav- mental and family history, from parents as soon ioral problems appear suddenly. as impairments in social interaction or communication skills are noted. See Table 16: Signs of 6. Collaborate with a mental health professional Autism in Infancy and Later. Screening tools (e.g., child psychologist, child psychiatrist, such as the Ages and Stages Questionnaire (ASQ) social worker) or a developmental-behavioral (Bricker and Squires, 1999), the Child Develop- pediatrician about ongoing management of ment Inventories (CDIs) (Ireton, 1992), and the associated behavioral and emotional difficulties

323 Table 16. Signs of Autism in Infancy and Later

PDD Signs in Infancy Motor Perceptual Socioemotional Language Mental Representation

Inactive • Mix of hyper and • Unresponsive • Delayed or absent • Decreased visual • Flaccid muscle tone hypo sensitivities to • Late, rare, or absent coo and/or pursuit of objects or • Rarely cries sensory stimuli social smile expressive people vocalization • Irritable Auditory • Avoids eye contact • Object permanence • Failure to imitate develops slowly • Inconsolable • Appears deaf to when held sounds or babble • Soothed only when voices, but jolts or • Fleeting eye • Little use of in constant motion panics at environ- contact at a distance communicative • Rigid when held mental sounds • Lack of anticipatory gestures • Arches away from Tactile response to being • Lack of pointing close physical • Prefers smooth picked up and pointing to contact surfaces • Fails to show obtain an object; • May have lost an • Refuses food with normal 8-month instead brings acquired skill rough texture stranger anxiety adult’s hand to desired object or • Adverse reaction to • Lack of gaze tries to get desired wool fabrics and monitoring seams object on own • Does not follow a • May have lost an point Visual acquired skill • Sensitive to light • Seems to dislike • May panic at being held changes in light • Seems content to levels be left alone • Preoccupied with • Fails to visually observing own follow comings and hand and finger goings of parents movements • Doesn’t play peek- a-boo or pat-a-cake or wave good-bye • Fails to form strong personal attachments

324 Table 16. Signs of Autism in Infancy and Later (continued) PDD

Signs Beyond Infancy Motor Perceptual Socioemotional Language Mental Representation

• Toe-walking • Withdraws from • Moves adult’s hand • Speech is delayed • No representational • Rocking environmental like a tool or absent, or shows play • Head banging stimulation • Insists on sameness precocious • Little appropriate advances followed • Whirling without • Engages in self- and ritualizes use of toys by failure to use dizziness stimulation routines • Preoccupied with • Becomes • Unable to identify previously learned impersonal • Perseverative words movements preoccupied with with another’s invariant spinning objects feelings or point of • Limited ability to information (e.g., • Sniffing • Suddenly ceases view follow directions television • Other stereotypics activity and stares • Lack of pointing to • Unable to point to commercials) into space, often direct another’s body parts, objects, • Unable to solve with neck attention to an or pictures when false-belief hyperextended interesting object named problems (“Sally or event • Lack of pointing and Ann Test”) and pointing to obtain an object; instead leads adult to desired object or gets desired object on own • Immediate echolalia • Delayed echolalia unrelated to social context • Pronoun reversals • Atonal, hollow, rhythmic voice

Source: Adapted from Kalmanson B, Pekarsky JH. 1987. Infant-parent psychotherapy with an autistic toddler. Zero to Three 7(3):1–6. Copyright 1987, ZERO TO THREE: National Center for Infants, Toddlers, and Families. Adapted with permission of the copyright holder.

325 to verbalize questions or distress but can benefit from an explanation of each step of the physical

PDD exam). 11. Identify the child’s or adolescent’s strengths, and focus on these when trying to find ways to help him interact more with his environment. Family 1. Help families engage long-term supports, for example, •Community supports (e.g., family members and friends) • Agency and organizational supports (e.g., the Department of Developmental Disabilities, state and local agencies, Supplemental Social Security Income, the Autism Society of Ameri- ca) (See Resources for Families, p. 328.) (e.g., aggression, hyperactivity, self-injurious • Physical and mental health professionals behaviors, anxiety symptoms, emotional distress with transitions). 2. Help families develop behavioral modification programs in the home setting (usually with the 7. If behavioral or self-injurious behaviors, anxiety, collaboration of a behavioral therapist specializ- or mood symptoms persist, consult with a child ing in developmental disorders) to strengthen psychiatrist or a developmental-behavioral pedi- adaptive behaviors (e.g., increased social interac- atrician about pharmacological interventions. tions) and to decrease maladaptive behaviors 8. Refer the child or adolescent for a comprehen- (e.g., aggression, self-injurious behaviors). sive speech and language assessment. Advocate 3. For children and adolescents whose symptoms for ongoing speech and language services as are less severe and involve more subtle difficulties indicated. with social communication and interactions, 9. Refer the child or adolescent for physical therapy help families structure activities to maximize and occupational therapy evaluations, including their child’s or adolescent’s opportunities to assessment of any sensory sensitivities. engage in positive social experiences (e.g., suggest 10. Incorporate an understanding of the child’s or that the child or adolescent participate in orga- adolescent’s communicative abilities into deal- nized clubs or sports that have close adult super- ings with the child or adolescent (e.g., a child or vision and in structured activities with one or adolescent whose receptive language skills two supportive peers). exceed her expressive abilities may not be able

326 tion and special education services through the Individuals with Disabilities Education Act PDD (IDEA). Legal mandates specify that all children and adolescents ages 3–21 who are diagnosed with a PDD receive appropriate educational services at no cost based on the child’s or adolescent’s Individualized Education Program (IEP). (See Tool for Families: Individualized Education Program [IEP] Meeting Checklist, Mental Health Tool Kit, p. 120.) Before age 3, services may be provided by other agencies through an Individ- ualized Family Service Plan. Parents should be aware that their child or adolescent may also qualify for services under Section 504 of the Rehabilitation Act. For further information about eligibility and services, families can consult the school’s special education coordinator, the local school district, the state department of education’s special education division, the U.S. Department of Educa- tion’s Office of Special Education Programs (http://www.ed.gov/offices/OSERS/OSEP), the IDEA ’97 Web site (http://www.ed.gov/offices/ OSERS/IDEA), or the U.S. Justice Department’s Civil Rights Division (http://www.usdoj.gov/ Friends crt/edo). 2. Be aware of how to help the family and the 1. In addition to encouraging the types of day-to- school access information about meeting the day social opportunities described above, con- child’s or adolescent’s educational and sider making a referral for social skills training developmental needs. An individualized via programs such as weekly social skills groups intervention program should be carried out by or peer tutoring programs. professionals experienced in working with children and adolescents with PDDs. A child or Community and School adolescent with a PDD may require intensive 1. Support families in requesting appropriate edu- and individualized instruction and inter- cational interventions. Children and adoles- ventions. Educational programs based on the cents with PDDs are eligible for early interven- Treatment and Education of Autistic and

327 Related Communication Handicapped Children Resources for Families (TEACCH) system (Campbell et al., 1995) have Academy for Educational Development National PDD shown promise for children and adolescents Information Center for Children and Youth with with PDDs and are based on the following Disabilities (NICHCY) principles: P.O. Box 1492 •Improving each child’s or adolescent’s overall Washington, DC 20013 adaptation by improving skills and developing Phone: (800) 695-0285 appropriate environmental adaptations Web site: http://www.nichcy.org •Using both formal measures (e.g., the Psychoe- NICHCY is funded by the Office of Special Educa- ducational Profile-Revised [PEP-R] [Schopler et tion Programs, U.S. Department of Education. It al., 1990]) and informal observation to design provides access to resources, including state- and individualized educational programs local-level agencies and resources. •Using cognitive and behavioral theory to inform interventions Administration for Children and Families Administration on Developmental Disabilities • Assessing and enhancing skills, while recogniz- U.S. Department of Health and Human Services ing areas of weakness Mail Stop: HHH 300-F • Using visual teaching techniques 370 L’Enfant Promenade, S.W. •Using a multidisciplinary team to address the Washington, DC 20447 child’s or adolescent’s needs, and engaging Phone: (202) 690-6590 consultants as indicated Web site: http://www.acf.dhhs.gov/programs/add

3. Support the school and the family in maximiz- American Association of University Affiliated ing a child’s or adolescent’s communication Programs for Persons with Developmental skills and in generalizing these skills to multi- Disabilities (AAUAP) ple settings. 8630 Fenton Street, Suite 410 4. Refer for additional services (e.g., speech and Silver Spring, MD 20910 language therapy, occupational therapy, voca- Phone: (301) 588-8252 tional training) as indicated. Web site: http://www.aauap.org

Autism Society of America (ASA) 7910 Woodmont Avenue, Suite 300 Bethesda, MD 20814-3015 Phone: (800) 3AUTISM (328-8476), ext. 150; (301) 657-0881 Web site: http://www.autism-society.org Local ASA chapters can serve as an important resource for families.

328 Di Lima SN, Niemeyer S, eds. 1997. Caregiver

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329 Schopler E, Reichler RJ, Bashford A, et al. 1990. Psychoedu- Volkmar FR, Cook EH Jr., Pomeroy J, et al. 1999. Practice cational Profile-Revised (PEP-R). Austin, TX: PRO-ED, parameters for the assessment and treatment of chil- Inc. Phone: (800) 897-3202; Web site: http://www. dren, adolescents, and adults with autism and other PDD proedinc.com. pervasive developmental disorders. Journal of the American Academy of Child and Adolescent Psychiatry Spratt EG, Macias MM, Charles JM. 2001. Autistic spec- 38(12Suppl.):32S–54S. trum disorders. In Gilman S, ed., Medlink-Neurology (1st 2001 ed.). San Diego, CA: Arbor Publishing. Volkmar FR, Klin A. 2000. Pervasive developmental disorders. In Sadock BJ, Sadock VA, eds., Kaplan and Volkmar FR. 1996. Autism and the pervasive developmen- Sadock’s Comprehensive Textbook of Psychiatry (7th ed.) tal disorders. In Lewis M, ed., Child and Adolescent Psy- (pp. 2659–2678). Philadelphia, PA: Lippincott chiatry : A Comprehensive Textbook (2nd ed.) (pp. Williams & Wilkins. 489–497). Baltimore, MD: Williams & Wilkins. Wolraich ML, Felice ME, Drotar D, eds. 1996. The Classifi- Volkmar FR, Cohen D. 1991. Nonautistic pervasive devel- cation of Child and Adolescent Mental Diagnoses in Pri- opmental disorders. In Michels R, Cavenar JO, eds., mary Care: Diagnostic and Statistical Manual for Primary Psychiatry (rev. ed.) (pp. 1–12). Philadelphia, PA: Lip- Care (DSM-PC) Child and Adolescent Version. Elk Grove pincott Raven. Village, IL: American Academy of Pediatrics.

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