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Objectives: To conduct a systematic review of recent pediatric Down syndrome (DS) neuropsychology research that may be useful to clinicians and researchers examining regression in this population., Methods: We reviewed original peer-reviewed articles published between 2013 and 2018 studying neuropsychological profiles in DS., Results: Thirty-one articles (of 1231 included in the original search) passed all inclusion criteria, were evaluated for bias, and were included in the analysis., Conclusion: Findings argued against a single "DS profile" and revealed multiple within-group differences as well as expected and unexpected differences relative to typically developing children and children with other intellectual and developmental disabilities. Areas identified as most germane to regression monitoring included working memory, inhibition, letter and word identification, navigational route learning, motor skills (when strong at baseline), single word receptive/expressive vocabulary, and adaptive function.

Case: Kristen is a 13-year-old girl with Down syndrome (DS) who was seen urgently with concerns of cognitive and developmental regression including loss of language, social, and toileting skills. The evaluation in the DS clinic focused on potential medical diagnoses including atlantoaxial joint instability, vitamin deficiency, obstructive sleep apnea (OSA), and seizures. A comprehensive medical evaluation yielded only a finding of moderate OSA. A reactive depression was considered in association with several psychosocial factors including moving homes, entering puberty/onset of menses, and classroom change from an integrated setting to a self- contained classroom comprising unfamiliar peers with behavior challenges.Urgent referrals for psychological and psychiatric evaluations were initiated. Neuropsychological testing did not suggest true regression in cognitive, language, and academic skills, although decreases in motivation and performance were noted with a reaction to stress and multiple environmental changes as a potential causative factor. Psychiatry consultation supported this finding in that psychosocial stress temporally correlated with Kristen's regression in skills.Working collaboratively, the team determined that Kristen's presentation was consistent with a reactive form of depression (DSM-IV-TR: depressive disorder, not otherwise specified). Kristen's presentation was exacerbated by salient environmental stress and sleep apnea, rather than a cognitive regression associated with a medical cause. Treatment consisted of an antidepressant medication, continuous positive airway pressure for OSA, and increased psychosocial supports. Her school initiated a change in classroom placement. With this multimodal approach to evaluation and intervention, Kristen steadily improved and she returned to her baseline function.

Case: Paul is a 7-year-old boy with a history of cerebral palsy and left-side weakness secondary to perinatal injury. He was adopted to the United States at 19 months from a baby home in Eastern Europe, where the caregiver to child ratio was 7:1. Paul spent most of his early developmental period in a crib. On adoption, he was nonverbal and nonambulatory, but these skills developed within 1 year. Paul was noted at 4 years of age to be struggling socially and also to exhibit restricted interests (e.g., memorizing maps and world leaders). He was referred for neuropsychological testing at age 5 and was found to have cognitive skills in the gifted range (verbal intelligence quotient, IQ =143; 99.8%) but exhibited markedly reduced social reciprocity with high levels of restricted interests and repetitive behaviors, leading to a diagnosis of autism spectrum disorder (ASD) in the context of early institutionalization. Given his cooperative and attentive presentation, high IQ, and ability to imitate, Floortime, a more naturalistic behavioral therapy for ASD, was recommended rather than traditional applied behavior analysis, which is more commonly available in the region. In addition, Paul was provided with group speech and language therapy with a social/pragmatic focus. After 1 year, Paul's socialization improved but he struggled to initiate interactions and maintain friendships. He focused instead on his restricted interests and played alone. After 2 years of intervention, Paul presents as highly sociable with well-sustained eye gaze, interactive play, and successful friendships. Still, without direction and structure, Paul will happily draw maps for hours at a time. He is hyperlexic and working far above grade level across subjects. His mother now questions--is this still truly institutional autism or is he simply too intelligent to relate to same-age peers?

Objective: Current recommendations for evaluation and diagnosis of attention-deficit hyperactivity disorder (ADHD) are meant for primary care settings and may not adequately address the needs of children seen in subspecialty developmental-behavioral pediatric settings who may have higher rates of comorbid developmental, learning, and psychiatric disorders. The authors sought to characterize the diagnostic complexity of school-aged children diagnosed with ADHD after comprehensive multidisciplinary evaluation in a subspecialty developmental-behavioral pediatric clinic., Methods: The authors conducted a retrospective medical record review of 144 patients aged 7 to 11 years who were consecutively evaluated by an interdisciplinary team (developmental-behavioral pediatrician, psychologist, educator) in a school-age clinic within a developmental-behavioral pediatrics tertiary care center from January 1, 2009 to December 31, 2009., Results: After comprehensive evaluation, rates of ADHD diagnosis increased from 32.6% (n = 47) preevaluation to 54.2% (n = 78) postevaluation (p < .0001). Rates of learning disorders among children receiving a final diagnosis of ADHD increased from 2.6% (n = 2) preevaluation to 50% (n = 39) postevaluation. (p < .0001). Among children receiving a final diagnosis of ADHD, 73.1% (n = 57) were diagnosed with at least 1 comorbid psychiatric, developmental, or learning disorder., Conclusions: Among school-aged children diagnosed with ADHD in a developmental-behavioral pediatric subspecialty setting, a comprehensive evaluation including developmental, neuropsychological, and educational assessments yielded high rates of comorbid psychiatric, developmental, and learning disorders. This supports the need to provide comprehensive interdisciplinary assessment for such children to ensure the identification and treatment of not only the core symptoms of ADHD but also the comorbidities that may otherwise go unrecognized and therefore not optimally treated.

Case: Kristen is a 13-year-old girl with Down syndrome (DS) who was seen urgently with concerns of cognitive and developmental regression including loss of language, social, and toileting skills. The evaluation in the DS clinic focused on potential medical diagnoses including atlantoaxial joint instability, vitamin deficiency, obstructive sleep apnea (OSA), and seizures. A comprehensive medical evaluation yielded only a finding of moderate OSA. A reactive depression was considered in association with several psychosocial factors including moving homes, entering puberty/onset of menses, and classroom change from an integrated setting to a self-contained classroom comprising unfamiliar peers with behavior challenges.Urgent referrals for psychological and psychiatric evaluations were initiated. Neuropsychological testing did not suggest true regression in cognitive, language, and academic skills, although decreases in motivation and performance were noted with a reaction to stress and multiple environmental changes as a potential causative factor. Psychiatry consultation supported this finding in that psychosocial stress temporally correlated with Kristen's regression in skills.Working collaboratively, the team determined that Kristen's presentation was consistent with a reactive form of depression (DSM-IV-TR: depressive disorder, not otherwise specified). Kristen's presentation was exacerbated by salient environmental stress and sleep apnea, rather than a cognitive regression associated with a medical cause. Treatment consisted of an antidepressant medication, continuous positive airway pressure for OSA, and increased psychosocial supports. Her school initiated a change in classroom placement. With this multimodal approach to evaluation and intervention, Kristen steadily improved and she returned to her baseline function.