Co-occurring conditions in Down syndrome: Findings from a clinical database.

Individuals with Down syndrome (DS) experience a range of medical and neurodevelopmental conditions, necessitating systematic study of their occurrence and impact on neurodevelopmental outcomes. We describe the prevalence and relationships of medical, neurodevelopmental (ND), and mental health (MH) conditions in children with DS. We created a prospective clinical database of individuals with DS, integrated into the workflow of a specialty Down Syndrome Program at a specialty pediatric referral hospital. Conditions were collected through caregiver- and clinician report at clinical visits (N = 599). We calculated frequencies of medical, ND, and MH conditions and then assessed the relationship between medical, ND, and MH conditions using frequencies and comparative statistics. The most frequent co-occurring conditions were vision (72.5%), ear/hearing (71.0%), gastrointestinal (61.3%), respiratory (45.6%), and feeding (33.6%) problems, with variation in frequency by age. ND and MH conditions were reported in one quarter, most commonly autism spectrum disorder and attention-deficit/hyperactivity disorder. Those with ND and MH conditions had greater frequency of medical conditions, with highest rates of vision, ear/hearing, and gastrointestinal issues, and CHD. Systematically collected clinical data in a large cohort of children with DS reveals high prevalence of several co-occurring medical, ND, and MH conditions. Clinical care requires an understanding of the complex relationship between medical conditions and neurodevelopment.

Development and implementation of a longitudinal clinical database for down syndrome in a large pediatric specialty clinic: Methodology and feasibility.

Down syndrome (DS) is a complex condition associated with multiple medical, developmental, and behavioral concerns. A prospective, longitudinal clinical database was integrated into a specialty Down Syndrome Program, with the goals of better understanding the incidence, course, and impact of co-occurring medical, neurodevelopmental, and mental health conditions in DS. We describe the process of developing the database, including a systematic approach to data collection and database infrastructure, and report on feasibility, challenges, and solutions of initial implementation. Between March 2018 and November 2021, data from 842 patients (ages 4.8 months to 26 years) was collected. Challenges included caregiver form completion as well as time and personnel required for successful implementation. With full integration into clinical visit flow, the database proved to be feasible. The database enables identification of patterns of development and health throughout the lifespan and it facilitates future data sharing and collaborative research to advance care.

Complex Attention-Deficit/Hyperactivity Disorder in a Bilingual Child with Down Syndrome and Intellectual Disability.

CASE: Maria is an 8-year-old girl with Down syndrome, described by her mother as an affectionate and social child, who was referred to developmental-behavioral pediatrics by her pediatrician because of increasing aggressive behaviors and inattention.Maria was 5 pounds at birth, delivered full-term by cesarean section, and hospitalized for 1 month after delivery because of feeding issues that required a nasogastric (NG) tube. Maternal age was 24 years, pregnancy was uncomplicated, and there were no reported prenatal exposures to substances. Additional medical history includes corrective cardiac surgery at age 11 months, mild-to-moderate hearing loss in 1 ear, and myopia.At the time of Maria's presentation to developmental-behavioral pediatrics, she was in third grade and had an IEP with placement in a substantially separate multigrade classroom and inclusion for special classes such as music and art. She had multiple academic goals and accommodations for behaviors such as eloping from class, shoving, and growling at adults; communication Picture Exchange Communication System (PECS); and extended time to complete assignments. Previously, she had attended an inclusion setting with a 1:1 aide. Maria is followed annually at a specialty clinic that focuses on the health needs of children with Down syndrome. At home, Maria's parents speak primarily Spanish, while her 2 older brothers speak primarily English. Maria has been using 3-word phrases since she was 6 years old and understands some American Sign Language. She also uses a PECS book for communication.During the visit, Maria was notably fidgety, frequently interrupted the parent interview despite having toys to play with, and became aggressive-hitting, kicking, pushing, and shoving-when she did not want to comply with directives. She used mostly single words and a variety of gestures to communicate. Both the parent-completed and teacher-completed Conners-3 (Long Version) produced elevated T-scores (>70) in the domains of inattention, hyperactivity/impulsivity, defiance/aggression, peer relations, Global Index scale, DSM-5 Hyperactive/Impulsive symptom scale, and DSM-5 Conduct Disorder symptom scale. The teacher endorsed full criteria for attention-deficit/hyperactivity disorder, consistent with combined presentation, and the parent endorsed symptoms in a similar pattern. Methylphenidate (2.5 mg) was trialed but tolerated poorly when it was titrated to 5 mg. Maria's mother reported that Maria's focus was somewhat better, but she was easily brought to tears and "not herself."What would be the next steps in Maria's evaluation/treatment? Could there be reasons for her worsening behavior other than a primary attention disorder?

Quality of Life and Family Impact in Down Syndrome, Autism Spectrum Disorder, and Co-occurring Down Syndrome and Autism Spectrum Disorder.

OBJECTIVE: Families of children with neurodevelopmental disorders have developmental, behavioral, and social-emotional needs that affect quality of life (QoL). This study assesses the validity and utility of a caregiver QoL measure; characterizes QoL in families with children with Down syndrome (DS), autism spectrum disorder (ASD), and a dual diagnosis of DS and ASD (DS + ASD); and compares and explores differences in QoL based on diagnosis. METHODS: Caregivers of children and adolescents with ASD (n = 610) and DS (n = 177) completed the Pediatric Quality of Life Inventory Family Impact Module 2.0, yielding overall, parent functioning, family functioning, and subscale scores, and a Parent Global Impression (PGI) rating. An ASD cohort (n = 177) was sex matched to the DS cohort (n = 177) to mitigate potential sex bias. Additional analyses compared these groups with children and adolescents with DS + ASD (n = 37). RESULTS: Analyses showed that the Pediatric Quality of Life Inventory was valid and reliable in DS, ASD, and DS + ASD populations. No differences were reported in PGI ratings among groups. Caregivers in the DS group demonstrated higher QoL and family functioning compared with the ASD and DS + ASD groups. The DS group reported significantly better Emotional Functioning and Communication and less Worry than the ASD group. Compared with the ASD group, caregivers of the DS + ASD group indicated more concerns with Physical Functioning. Notably, the DS + ASD group had significantly lower levels of QoL than the DS group in nearly all caregiver functioning domains. CONCLUSION: This study highlights differences in QoL within and between neurodevelopmental disorder groups, which may help identify families requiring additional support, advocacy, and community engagement.

Is Developmental Regression in Down Syndrome Linked to Life Stressors?

OBJECTIVE: Unexplained regression in Down syndrome (URDS) involves a loss of acquired skills resulting in functional deterioration. Despite extensive workup and treatment, few individuals regain baseline function. This study aimed to understand the role of psychosocial stressors in URDS. METHODS: We describe psychosocial stressors in 14 cases of URDS. Specifically, we examined psychosocial stressors in the context of presentation and clinical symptoms. We also examined co-occurring neurodevelopmental disorders and medical and mental health conditions. RESULTS: All individuals experienced psychosocial stressors within one year of diagnosis of URDS. The most common psychosocial stressors were moving to a new home or school. CONCLUSION: Psychosocial stressors are commonly reported preceding URDS. Knowledge about psychosocial stressors' impact may lead to preventive interventions, improved monitoring, and earlier diagnosis. Future research should focus on understanding psychosocial stressors to help identify individuals at risk for URDS and contribute to treatment.