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Neurobehavioral Disorders in Children, Adolescents, and Young Adults with Down Syndrome American Journal of Medical Genetics Part C (Seminars in Medical Genetics) 142C:158–172 (2006) ARTICLE Neurobehavioral Disorders in Children, Adolescents, and Young Adults With Down Syndrome GEORGE CAPONE,* PARAG GOYAL, WILLIAM ARES, AND EMILY LANNIGAN The term dual-diagnosis refers to a person with mental retardation and a psychiatric disorder. Most children with Down syndrome (DS) do not have a psychiatric or neurobehavioral disorder. Current prevalence estimates of neurobehavioral and psychiatric co-morbidity in children with DS range from 18% to 38%. We have found it useful to distinguish conditions with a pre-pubertal onset from those presenting in the post-pubertal period, as these are biologically distinct periods each with a unique vulnerability to specific psychiatric disorders. Due to the increased recognition that psychiatric symptoms may co-occur with mental retardation, and are not inextricably linked to cognitive impairment, these conditions are considered treatable, in part, under a medical model. Improvement in physiologic regulation, emotional stability, and neurocognitive processing is one of the most elusive but fundamental goals of pharmacologic intervention in these disorders. ß 2006 Wiley-Liss, Inc. KEY WORDS: Down syndrome; dual-diagnosis; neurobehavioral disorder; psychiatric disorder; attention deficit hyperactivity disorder; oppositional defiant disorder; disruptive behavior disorder; autistic spectrum disorder; pervasive developmental disorder; stereotypy movement disorder; depression; obsessive-compulsive disorder; psychosis; aberrant behavior checklist; Reiss scales; Diagnostic & Statistical Manual IV How to cite this article: Capone G, Goyal P, Ares W, Lannigan E. 2006. Neurobehavioral disorders in children, adolescents, and young adults with Down syndrome. Am J Med Genet Part C Semin Med Genet 142C:158–172. NEUROBEHAVIORAL could have co-existing mental illness was case-reports and case-series focus on the DISORDERS IN PERSONS not generally accepted on theoretical presentation, diagnosis, and treatment of WITH MENTAL grounds. It was widely held that all various psychiatric disorders in adults RETARDATION AND behavioral disturbances were inherently with DS. The existing literature however, DOWN SYNDROME linked to cognitive impairment in fails to capture the complex background persons with MR, and did not require upon which these disorders may present, The term dual-diagnosis refers to a further diagnostic consideration or so there is little information regarding person with mental retardation and a evaluation. In recent decades, there has associated medical conditions, develop- psychiatric disorder [Lovell and Reiss, been wider recognition that persons mental attributes, or treatment outcomes 1993]. In the past, the notion that with MR can also have a co-existing in children with DS and any psychiatric persons with mental retardation (MR) psychiatric disorder. Increasing interest disorder. This review, which focuses on from medical and mental health practi- children, adolescents, and young adults tioners has resulted in practical guide- with DS, represents a distillation and George Capone, M.D. has been Director of the Down Syndrome Clinic (DSC) at lines on how to work with this synthesis of information from several Kennedy Krieger Institute since 1990. His population [Silka and Hauser, 1997; sources including: the available literature primary interests include characterization Aman et al., 2004; Summers et al., on DS, dual-diagnosis in persons with of neurobehavioral phenotypes, diagnosis and management of complex neurodevelop- 2004]. An important implication of MR, a growing body of literature in mental and behavioral conditions, and these efforts is the realization that pediatric psychiatry and psychopharma- pharmacologic interventions. psychiatric disorders are not inextricably cology, as well as our own clinical Parag Goyal and William Ares worked as Research Associates with Dr. Capone in the linked to cognitive impairment, and are experience over the past 15 years. treatable, in part, using a medical model. DSC; they have recently graduated from PREVALENCE ESTIMATES Johns Hopkins University. The prevalence of various psychia- OF PSYCHIATRIC Emily Lannigan also worked as a Research tric and behavioral disorders in children Associate in the DSC and recently graduated AND BEHAVIORAL and adolescents with Down syndrome from Loyola College in Maryland. CO-MORBIDITY IN *Correspondence to: George Capone, (DS) is available from small community, M.D., Kennedy Krieger Institute, 707 N. DOWN SYNDROME Broadway, Baltimore MD 21205. school, or clinic samples; which use E-mail: [email protected] different terminology,diagnostic criteria, The majority of children with DS do DOI 10.1002/ajmg.c.30097 and design to derive their data. A few not have a coexisting psychiatric or ß 2006 Wiley-Liss, Inc. ARTICLE AMERICAN JOURNAL OF MEDICAL GENETICS PART C (SEMINARS IN MEDICAL GENETICS): DOI 10.1002/ajmg.c 159 behavioral disorder, and the available for significant behavior problems arousal or activity level, physiologic estimates of psychiatric co-morbidity [Dykens et al., 2002]. Externalizing disturbance, atypical development, or range from 18% to 38% [Menolascino, behaviors (aggression, delinquency) neurocognitive function. Table I sum- 1965; Gath and Gumley, 1986; Gillberg tended to decrease after onset of puberty, marizes some of the attributes of young et al., 1986; Myers and Pueschel, 1991; while certain internalizing behaviors Coe et al., 1999; Dykens et al., 2002]. (social withdrawal, secretiveness) in- These estimates are greater compared to creased in adolescents and teenagers. Focus beyond overt behaviors children from the general population, Clark and Wilson sampled the parents but probably lower compared to other and teachers of 60 children with DS in search of diagnostic clues, children with similar levels of MR [Gath ascertained through an outpatient such as alterations in mood, and Gumley, 1986]. clinic and described an age-dependent arousal or activity level, Gath and Gumley sampled 193 increase in problems with attention children with DS from community deficit, anger/self-control, psychosis, physiologic disturbance, schools and used the Rutter Behavioral and withdrawal [Clark and Wilson, atypical development, or Scale and parent interviews to estimate 2003]. the prevalence of significant behavior neurocognitive function. problems at 38% (infantile autism 1%, LEARNED BEHAVIOR childhood psychosis 9%, conduct dis- AND PSYCHIATRIC children seen in our clinic with DS turbance 15%, emotional disturbance SYMPTOMATOLOGY diagnosed with psychiatric disorder. In 3%, and hyperactivity disorder 9%) adolescents and young adults with DS [Gath and Gumley, 1986]. Myers and It is too simplistic to dichotomize most who have achieved a previous stable level Pueschel sampled 261 children with DS, atypical or maladaptive behaviors in of function, the diagnostic process is ascertained from a large outpatient persons with MR as exclusively beha- only slightly less daunting. Guidelines to medical clinic, and used DSM-IIIR vioral or psychiatric, as neither ade- assist with diagnostic formulation in criteria to determine the prevalence of quately captures the complexity of most adults with MR have been proposed psychiatric disorders at 17.5% (infantile cases. Behavioral [Lowry and Sovner, [Sovner and Lowry, 1990; Schwartz and autism 1%, stereotypic-repetitive beha- 1991], psychiatric [Sovner, 1996], and Ruedrich, 1996], which caution against viors 4.5%, anxiety disorders 1.5%, integrated models [Gardner and Grif- over reliance upon DSM criteria as too conduct disturbance 12%, ADHD 6%) fiths, 2004] have been advanced to limiting, when used alone, to make a [Myers and Pueschel, 1991]. Kent et al. explain the nature of maladaptive beha- diagnosis [Sovner, 1986; Silka and used the Childhood Autism Rating viors. Maladaptive behaviors, which Hauser, 1997]. Scale, the Asperger Syndrome Screening come to clinical attention are often Questionnaire, and ICD-9 criteria to related to unrecognized disturbance(s) BEHAVIORAL STYLE AND estimate the prevalence of autism spec- in social-psychological, developmental- COMMON CONCERNS IN trum disorders at 7% in a small commu- physiological, or medical-psychiatric YOUNG CHILDREN WITH nity-based sample of 33 children with factors [Silka and Hauser, 1997]. DOWN SYNDROME DS [Kent et al., 1999]. Problem behaviors in young pre- Pueschel characterized a pattern school and school-age children with DS Preschoolers with DS can exhibit the full of hyperactivity-impulsivity-inattention frequently occur within a setting of range of temperament styles; however, and stubbornness-disobedience in over atypical cognitive-language-social func- there may be qualitative differences half of the 40 school-age children with tion, inconsistent progress in achieving on such traits as ‘‘response intensity’’, DS ascertained from an outpatient clinic or demonstrating developmental skills, ‘‘threshold for stimulation,’’ and sample [Pueschel et al., 1991]. Coe et al. and considerable caregiver anxiety or ‘‘mood’’ when comparing toddlers with surveyed the parents and teachers of confusion. Distinguishing a component DS to mental-age-matched control chil- 44 children with DS ascertained from of psychiatric symptomatology within dren [Gunn and Berry, 1985]. There is a school and community sources and the setting of problem behavior is critical trend for infants with DS classified as determined the prevalence of behavior
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