Providing a Primary Care Medical Home for Children and Youth With Cerebral Palsy.

Cerebral palsy (CP) is the most common motor disorder of childhood, with prevalence estimates ranging from 1.5 to 4 in 1000 live births. This clinical report seeks to provide primary care physicians with guidance to detect children with CP; collaborate with specialists in treating the patient; manage associated medical, developmental, and behavioral problems; and provide general medical care to their patients with CP.

The Autism Detection in Early Childhood Tool: Level 2 autism spectrum disorder screening in a NICU Follow-up program.

OBJECTIVE: Children born preterm are at increased risk for autism spectrum disorder (ASD). However, early diagnosis of ASD is challenging because conventional screening Level 1 tools are less reliable in this population. We sought to determine whether the Autism Detection in Early Childhood (ADEC) and Child Behavior Checklist (CBCL) could accurately identify children at risk for ASD in a NICU Follow-up setting and thus facilitate referral for formal ASD evaluation. METHOD: Children aged 18-36 months were recruited from a NICU Follow-up program. All children received presumptive diagnoses based on DSM-5 criteria and were screened for ASD risk with the ADEC and CBCL. Children scoring in the "at risk" range on either tool were referred for a full diagnostic ASD evaluation. RESULTS: Sixty-nine patients (median birth weight 1140 g; median gestational age 28 weeks) were included with 18 designated "at risk" for ASD. Nine (13 %) scored "at risk" on the ADEC and 12 (17 %) on the CBCL. Thirteen children underwent diagnostic ASD evaluation with 9 receiving a formal diagnosis of ASD. The ADEC demonstrated the best performance (sensitivity 89 %, specificity 98 %). The CBCL was less sensitive (sensitivity 50 %, specificity 90 %). Requiring elevated scores on both the CBCL and ADEC was specific but not sensitive (sensitivity 33 %, specificity 100 %). CONCLUSION: The ADEC performed well in identifying children at risk for ASD within this high-risk NICU cohort, adding benefit as an autism-specific screening tool over the CBCL alone.

The Value of Telehealth and a Team-Based Approach in Improving Developmental and Behavioral Care During the COVID-19 Pandemic.

CASE: Billy is a 2.6-year-old boy who presented for evaluation in the developmental-behavioral pediatrics (DBP) clinic 2 weeks before the onset of pandemic-related clinic restrictions. Billy had received early intervention for the past year because of speech and fine motor delays. Billy's parents requested the evaluation in the DBP clinic because his delayed speech and disruptive behaviors had raised concern that he may have autism spectrum disorder. Owing to the onset of the pandemic, subsequent visits were completed through telehealth with a developmental-behavioral pediatrician, psychologist, behavioral clinician, and social workers who developed a collaborative plan of care. Billy was diagnosed with global developmental delay, significant tantrums, and impulsivity but did not meet the criteria for autism spectrum disorder.Billy lives with his parents and 2 sisters in a rural area, 3 hours from the DBP clinic. Both of his parents have been treated for depression in the past and reported that school was difficult for them. His sisters, ages 5 and 6 years, receive speech/language therapy but have not required additional special education services. His family has endured recent stressors including a flooding event that caused significant damage to their home, financial difficulties, and the recent unexpected death of a close family member. Billy's disruptive behaviors have resulted in difficulty finding and maintaining child care, further contributing to parental stress and dysfunction in the home.Despite assistance from the social worker, additional developmental and behavioral support services near the family's home were not identified. Therefore, services were offered to Billy and his parents through telehealth. Billy's parents began behavioral parent training with a clinician embedded within the DBP clinic and, with direct support from his parents, Billy began receiving supplemental speech/language and occupational therapies through telehealth. Through recurrent engagement with Billy's parents and frequent communication among the behavioral clinician, developmental-behavioral pediatrician, psychologist, and social worker, Billy was able to make significant developmental progress, and his parents reported improved ability to manage his difficult behaviors.How can telehealth be used to help families navigate complex systems and obtain optimal care and support?

Unexplained regression in Down syndrome: 35 cases from an international Down syndrome database.

PURPOSE: An entity of regression in Down syndrome (DS) exists that affects adolescents and young adults and differs from autism spectrum disorder and Alzheimer disease. METHODS: Since 2017, an international consortium of DS clinics assembled a database of patients with unexplained regression and age- and sex-matched controls. Standardized data on clinical symptoms and tiered medical evaluations were collected. Elements of the proposed definition of unexplained regression in DS were analyzed by paired comparisons between regression cases and matched controls. RESULTS: We identified 35 patients with DS and unexplained regression, with a mean age at regression of 17.5 years. Diagnostic features differed substantially between regression cases and matched controls (p < 0.001 for all but externalizing behaviors). Patients with regression had four times as many mental health concerns (p < 0.001), six times as many stressors (p < 0.001), and seven times as many depressive symptoms (p < 0.001). Tiered medical evaluation most often identified abnormalities in vitamin D 25-OH levels, polysomnograms, thyroid peroxidase antibodies, and celiac screens. Analysis of the subset of patients with nondiagnostic medical evaluations reinforced the proposed definition. CONCLUSIONS: Our case-control evidence supports a proposed definition of unexplained regression in Down syndrome. Establishing this clinical definition supports future research and investigation of an underlying mechanism.

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

Recent studies have shown that certain copy number variations (CNV) are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorders (ASD), bipolar disorder and intellectual disabilities. Implicated regions and genes have comprised a variety of post synaptic complex proteins and neurotransmitter receptors, including gamma-amino butyric acid A (GABAA). Clusters of GABAA receptor subunit genes are found on chromosomes 4p12, 5q34, 6q15 and 15q11-13. Maternally inherited 15q11-13 duplications among individuals with neurodevelopmental disorders are well described, but few case reports exist for the other regions. We describe a family with a 2.42 Mb duplication at chromosome 4p13 to 4p12, identified in the index case and other family members by oligonucleotide array comparative genomic hybridization, that contains 13 genes including a cluster of four GABAA receptor subunit genes. Fluorescent in-situ hybridization was used to confirm the duplication. The duplication segregates with a variety of neurodevelopmental disorders in this family, including ASD (index case), developmental delay, dyspraxia and ADHD (brother), global developmental delays (brother), learning disabilities (mother) and bipolar disorder (maternal grandmother). In addition, we identified and describe another individual unrelated to this family, with a similar duplication, who was diagnosed with ASD, ADHD and borderline intellectual disability. The 4p13 to 4p12 duplication appears to confer a susceptibility to a variety of neurodevelopmental disorders in these two families. We hypothesize that the duplication acts through a dosage effect of GABAA receptor subunit genes, adding evidence for alterations in the GABAergic system in the etiology of neurodevelopmental disorders.