Disorders, Disabilities, and Differences: Reconciling the Medical Model with a Neurodiversity Perspective.

CASE SECTION: Zoe is a 25-month-old girl who presented to developmental-behavioral pediatrics with her parents for follow-up after receiving a diagnosis of autism spectrum disorder with global developmental delay and language impairment 3 months ago. Zoe was born by spontaneous vaginal delivery at term after an uncomplicated pregnancy, labor, and delivery. She had a routine newborn course and was discharged home with her parents 2 days after her birth.At 7 months, Zoe was not able to sit independently, had poor weight gain, and had hypertonia on physical examination. Her parents described her to tense her arms and have hand tremors when she held her bottle during feedings and reported that she had resisted their attempts to introduce pureed or other age-appropriate table foods into her diet. The Bayley Scales of Infant and Toddler Development Screening Test was administered and found a cognitive composite score of 70, language composite score of 65, and motor composite score of 67. Chromosomal microarray analysis, testing for fragile X syndrome, laboratory studies for metabolic disorders, magnetic resonance imaging of the brain, and an audiologic examination were normal. Zoe was referred to and received early intervention services including physical therapy, feeding therapy, and infant stimulation services. By 16 months, Zoe was walking independently and was gaining weight well but continued to have sensory aversions to some foods.At 22 months, Zoe was evaluated by a multidisciplinary team because of ongoing developmental concerns and concerning results on standardized screening for autism spectrum disorder completed at her 18-month preventive care visit. Her parents also reported concern about the possibility of autism spectrum disorder (ASD) because they both were diagnosed with ASD as young children. Both parents completed college and were employed full-time. Zoe's mother seemed to be somewhat anxious during the visit and provided fleeting eye contact throughout the evaluation. Zoe's father was assertive, but polite, and was the primary historian regarding parental concerns during the evaluation.Zoe was noted to have occasional hand flapping and squealing vocalizations while she roamed the examination area grabbing various objects and casting them to the floor while watching the trajectory of their movements. She did not use a single-finger point to indicate her wants or needs and did not initiate or follow joint attention. She met criteria for ASD. In discussing the diagnosis with Zoe's parents, they shared that they were not surprised by the diagnosis. They expressed feeling that Zoe was social and playful, although delayed in her language. Hence, they were more concerned about her disinterest in eating. They were not keen on behavioral intervention because they did not want Zoe to be "trained to be neurotypical." Although the mother did not receive applied behavior analysis (ABA), the father had received ABA for 3 years beginning at age 5 years. He believed that ABA negatively changed his personality, and he did not want the same for Zoe.How would you assist Zoe's parents in identification of priorities for her developmental care while ensuring respect for their perspective of neurodiversity?

Maternal Depressive Symptoms and Developmental Delay at Age 2: A Diverse Population-Based Longitudinal Study.

OBJECTIVES: Children raised by depressed mothers perform lower on measures of cognitive, emotional, and behavioral skills, compared to children of non-depressed mothers. It is unclear how maternal depressive symptoms (MDS), which persist and accrue over time, impact child development. The purpose of this study was to determine whether cumulative MDS from pre-pregnancy to postpartum influences child development in children by age 2.5. METHODS: Using a longitudinal population-based study design, 2679 racially and ethnically diverse mothers completed the 2014 Los Angeles Mommy and Baby (LAMB) and 2016 Follow-Up surveys. A total MDS score was created based on responses to standardized questions, including the Patient Health Questionnaire-2 (PHQ-2). Data was collected for before pregnancy, during pregnancy, and 4 months postpartum in the 2014 survey, and at 2.5 years postpartum in the 2016 survey. Child development was measured using the CDC's Learn the Signs. Act Early Milestones Checklist. Bivariate and multivariate logistic regressions were conducted. RESULTS: The prevalence of any cumulative MDS was 45.2%. Language, cognitive/adaptive, motor, and social-emotional delays for surveyed toddlers were 7.7%, 4.0%, 1.2%, and 14.2%. After adjusting for covariates, mothers reporting depressive symptoms at all four time points were significantly more likely to report a social-emotional delay in their child (aOR = 4.39, 95% CI - 1.72 to 11.18). CONCLUSIONS FOR PRACTICE: Mothers with cumulative depressive symptoms are at-risk of reporting social-emotional delays by age 2.5. Understanding these effects may help direct resources to target interventions that support mothers with depressive symptoms early-on and promote positive developmental outcomes among their children.

Toilet School for Children with Failure to Toilet Train: Comparing a Group Therapy Model with Individual Treatment.

OBJECTIVE: This study compared the toileting outcomes of children participating in Toilet School group therapy with children in individual treatment. METHOD: All children in this study failed conventional toilet training and were 4 to 6 year, 11 month old. Cases were 63 children who attended a 6-week Toilet School group therapy with their parents. Controls were 62 children who were seen in individual treatment in the same tertiary care program and were matched to cases based on treatment dates. We analyzed the number of toileting benchmarks met for cases and controls. We used a stepwise linear regression model to investigate the contribution of child and family factors in predicting the number of toileting benchmarks met. RESULTS: Compared to controls, cases achieved significantly more toileting benchmarks (p < .001) at the end of Toilet School, were more likely to have bowel movements in the toilet (p = .001), and required fewer subsequent visits until completion of toilet training (p = .013). Similarly, at the seventh provider encounter for both controls and cases, the cases continued to achieve significantly more toileting benchmarks (p < .001) and were more likely to have bowel movements in the toilet (p = .002) compared to controls. After adjusting for age, gender, neighborhood poverty level, and number of total clinical visits for fecal incontinence, treatment grouping was the only independent variable that predicted toileting progress. CONCLUSION: For children with failure to toilet train, group treatment involving both the child and the family results in greater improvement in toileting outcomes than individual treatment.

Intracellular trafficking and replication of Burkholderia cenocepacia in human cystic fibrosis airway epithelial cells.

We investigated the trafficking of Burkholderia cenocepacia, an opportunistic respiratory pathogen of persons with cystic fibrosis (CF), in immortalized CF airway epithelial cells in vitro. Our results indicate that bacteria enter cells in a process involving actin rearrangement. Whereas both live and heat-killed bacteria reside transiently in early endosomes, only live bacteria escape from late endosomes to colocalize in vesicles positive for lysosomal membrane marker LAMP1, endoplasmic reticulum (ER) membrane marker calnexin, and autophagosome marker monodansylcadavarine (MDC). Twenty-four hours after infection, microcolonies of live bacteria were observed in the perinuclear area colocalizing with calnexin. In contrast, after ingestion, dead bacteria colocalized with late endosome marker Rab7, and lysosome markers LAMP1 and cathepsin D, but not with calnexin or MDC. Six to eight hours after ingestion of dead bacteria, degraded bacterial particles were observed in the cytoplasm and in vesicles positive for cathepsin D. These results indicate that live B. cenocepacia gain entry into human CF airway cells by endocytosis, escape from late endosomes to enter autophagosomes that fail to fuse with mature lysosomes, and undergo replication in the ER. This survival and replication strategy may contribute to the capacity of B. cenocepacia to persist in the lungs of infected CF patients.

Simultaneous coinfection by multiple strains during Burkholderia cepacia complex infection in cystic fibrosis.

Much remains unknown about the natural history of respiratory tract infection by Burkholderia cepacia complex (Bcc) in persons with cystic fibrosis (CF). Specifically, it is not clear whether infected CF patients typically harbor a single Bcc strain or multiple strains that may be phenotypically indistinguishable. We genotyped 912 Bcc isolates recovered from CF sputum culture from in excess of 100 patients to demonstrate that chronic infection generally involves a single strain. Transient coinfection with more than 1 strain occurs infrequently and may be more common early in the course of Bcc infection.