Health Care for Youth With Neurodevelopmental Disabilities: A Consensus Statement.

Individuals with a neurodevelopmental disability (NDD) face significant health care barriers, disparities in health outcomes, and high rates of foregone and adverse health care experiences. The Supporting Access for Everyone (SAFE) Initiative was developed to establish principles of health care to improve equity for youth with NDDs through an evidence-informed and consensus-derived process. With the Developmental Behavioral Pediatric Research Network, the SAFE cochairs convened a consensus panel composed of diverse professionals, caregivers, and adults with NDDs who contributed their varied expertise related to SAFE care delivery. A 2-day public forum (attended by consensus panel members) was convened where professionals, community advocates, and adults with NDDs and/or caregivers of individuals with NDDs presented research, clinical strategies, and personal experiences. After this, a 2-day consensus conference was held. Using nominal group technique, the panel derived a consensus statement (CS) on SAFE care, an NDD Health Care Bill of Rights, and Transition Considerations. Ten CSs across 5 topical domains were established: (1) training, (2) communication, (3) access and planning, (4) diversity, equity, inclusion, belonging, and anti-ableism, and (5) policy and structural change. Relevant and representative citations were added when available to support the derived statements. The final CS was approved by all consensus panel members and the Developmental Behavioral Pediatric Research Network steering committee. At the heart of this CS is an affirmation that all people are entitled to health care that is accessible, humane, and effective.

Challenging Case: A Multidisciplinary Approach to Demystifying Chronic Sleep Impairment in an Infant with a Complex Medical and Behavioral Profile.

CASE: X is a 22-month-old White male infant with a complex medical history, including diagnoses of FBXO11 mutation, hypotonia, restrictive lung disease and mild intermittent asthma, laryngotracheomalacia, obstructive sleep apnea (OSA), feeding difficulties with a history of aspiration, gastroesophageal reflux disease (GERD), and developmental delays. X's medical presentation has resulted in multiple prior medical admissions for respiratory failure due to acute illnesses, procedures and treatments including gastrojejunostomy (GJ) tube dependence, supraglottoplasty to reshape tissues of the upper larynx, and the use of biphasic positive airway pressure (BiPAP) at night and room air during the day when he is at baseline. In addition, he has nocturnal events characterized by significant agitation, screaming, crying, body stiffening and limb movements with pauses in breathing, mouth breathing, restless sleep, and difficulty waking in the morning with concomitant daytime fatigue despite above treatments for OSA. There is no history of congenital heart disease or sudden unexplained death. Family history is noncontributory because parents are negative for the FBXO11 variant.X's sleep disruption has led to significant sleep deficits for both X and his caregivers, who spend much of the night strategizing on how to console him. X has undergone several sleep studies, starting when X was aged 4 months, at several children's hospitals across the nation to determine the cause of his chronic sleep disturbance, which yielded limited information and treatment success. As an infant, X received a medical workup and was subsequently treated with a proton pump inhibitor (PPI) for reflux. At 12 months, he was diagnosed with disordered sleep with myoclonic jerks and started on melatonin and gabapentin for involuntary movements. At 13 months, gabapentin was weaned back because of intolerance, and at 15 months, nortriptyline and clonidine were started because of worsening symptoms to target potential neuropathic pain. While most of his symptoms were at night, he had occasional daytime screaming episodes, particularly when experiencing illness. Gabapentin and clonidine were stopped because nortriptyline seemed most effective.At 17 months, the results from a sleep study led to a diagnosis of night terrors, and several clinicians agreed that X's sleep disruption was behavioral in nature. At this time, an infant mental health consultant met with a sleep psychologist on the family's behalf to support family in considering systematic desensitization therapy to increase tolerance to wearing his BiPAP mask, as well as other behavioral and sleep hygiene strategies, which were tried on several occasions and again, resulted in limited improvement in functioning.At 19 months, X's multidisciplinary team reconsidered a night terror diagnosis after a failed trial of clonazepam and pursued a differential diagnosis of periodic limb movement disorder (PLMD). X trialed gabapentin again, but this time only a nighttime dose, per sleep medicine and psychiatry recommendation. While this brought some temporary relief from nighttime distress, despite increasing to the highest dose for age and weight (15 mg/kg/dose), this became less effective, and he was weaned off at 22 months. He had been on iron supplementation since age 6 months and received an iron infusion at 22 months because of persistently low ferritin levels and PLMD in sleep.At 24 months, X was briefly trialed on levetiracetam. While no evidence for seizures on EEG was present, this medication was chosen for involuntary movements and genetic risk for seizures. However, this medication was not useful. At 25 months, an evaluation with a movement disorder physiatrist resulted in a diagnosis of nocturnal paroxysmal dystonia, and he was started on baclofen, which has provided some, but not complete relief to nighttime symptoms. Parents are reporting he has more "good nights" than "bad nights," but "bad nights" come in stretches of a few days in length with no known trigger or relief.Most recently, X was evaluated by general genetics. Whole exome sequencing (WES) was pursued which revealed a pathogenic de novo variant in FBXO11 and provides a likely cause for his neurodevelopmental phenotype. However, he has some features not explained by FBX011; thus, reanalysis of his WES was performed and revealed a de novo variant of uncertain significance in RAF1. Because pathogenic variants in RAF1 have been associated with dilated cardiomyopathy and Noonan spectrum disorder, it was recommended that X be followed periodically in a cardiac genetics clinic. Family is well connected into the FBXO11 community, including supportive Facebook groups. Parents have shared that they do not feel X's breathing issues and pain fit with the phenotype of other children with FBXO11 mutations.X is also enrolled in a medical child care program to facilitate development and social-emotional functioning and receives learning, speech, occupational, physical, and feeding therapy while in attendance. Despite periods of absence due to contracting numerous viral illnesses over the past several months, X continues to make progress across developmental therapies and happily engages when at the program.What additional diagnostic tests and treatment should be considered to better understand X's medical and behavioral presentation? What are the implications of chronic sleep deprivation and stress on the behavior and development of infant with X's profile? What are important psychosocial considerations because it relates to children with medical complexity (CMC), particularly for X and his family to support caregiver, family, and X's quality of life and overall well-being?

Complex Autism Spectrum Disorder: Structural Determinants of Health and Their Impact on the Diagnosis.

CASE: Emmanuel is a 6.5-year-old boy who was referred to your evaluation clinic for concerns about his social skills and communication. He arrived in the United States (US) 1 year ago after an immigration trajectory that began in Haiti when he was aged 3 years; passed through Mexico, where the family was in various shelters for over a year; and concluded 2 years later, with the family eventually settling in an urban center in the northeastern United States. While in Mexico, the family was living in a camp without access to utilities. They faced significant food insecurity and experienced multiple relocations because of fears of physical safety.Emmanuel's native language is Haitian Creole, but he learned some Spanish during the year spent in Mexico. Now in the United States, he has been enrolled for the last year in the public school system, where he participates in an inclusion English as a Second Language kindergarten classroom. The school has expressed concern about several behaviors including bolting from the classroom, shouting out inappropriately, and taking food from other children's lunches.On initial meeting with a DBP clinician, Emmanuel's parents report that they do not have any concerns at home about his behavior, although they do feel that he "talks less than his 3 older siblings." The 6-person household is currently living in one-room, temporary housing; they deny current food insecurity.As part of his evaluation, you perform an Autism Diagnostic Observation Scale-2 Module 3 in English with the support of an in-person Haitian Creole interpreter. Emmanuel does not make eye contact throughout the evaluation but does respond to your questions in a combination of English and Haitian Creole. He can define the concept of a "friend" but cannot name one of his own friends. He is not able to engage in the demonstration task with words but does use gestures to indicate the actions involved in brushing teeth. His free play is perseverative and centers around fighting between the action figures.Brief cognitive testing reveals normal nonverbal intelligence. He is unable to decode in English on achievement testing. The family completes a Social Responsiveness Scale in English, which shows normal scores except in the repetitive behaviors section, where the family endorses pacing and some restricted interests, particularly around video games.He is not yet on an Individualized Education Plan, and there have been no formal assessments from the school except for language dominance testing indicating that his dominant language is Haitian Creole, with emerging English skills. What specific topics are unique to the evaluation for autism in an English language learner with a significant trauma history? What factors should be considered when assessing a child with a history of immigration trauma?

Independent and joint association of cord plasma pantothenate and cysteine levels with autism spectrum disorders and other neurodevelopmental disabilities in children born term and preterm.

Background: Pantothenate (vitamin B5) is a precursor for coenzyme A (CoA) synthesis, which serves as a cofactor for hundreds of metabolic reactions. Cysteine is an amino acid in the CoA synthesis pathway. To date, research on the combined role of early life pantothenate and cysteine levels in childhood neurodevelopmental disabilities is scarce. Objective: To study the association between cord pantothenate and cysteine levels and risk of autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and other developmental disabilities (DD) in children born term and preterm. Methods: The study sample (n = 996, 177 born preterm) derived from the Boston Birth Cohort included 416 neurotypical children, 87 ASD, 269 ADHD, and 224 other DD children, who were mutually exclusive. Participants were enrolled at birth and were followed up prospectively (from October 1, 1998, to June 30, 2018) at the Boston Medical Center. Cord blood sample was collected at birth. Plasma pantothenate and cysteine levels were measured using liquid chromatography-tandem mass spectrometry. Results: Higher cord pantothenate (≥50th percentile vs. <50th percentile) was associated with a greater risk of ASD (adjusted odds ratio [aOR]: 1.94, 95% confidence interval [CI]: 1.06, 3.55) and ADHD (aOR: 1.66, 95% CI: 1.14, 2.40), after adjusting for potential confounders. However, cord cysteine alone was not associated with risk of ASD, ADHD, or other DD. When considering the joint association, greater ASD risk was noted when both cord pantothenate and cysteine levels were elevated (≥50th percentile) (aOR: 3.11, 95% CI: 1.24, 7.79), when compared to children with low cord pantothenate (<50th percentile) and high cysteine. Even though preterm and higher pantothenate independently increased the ASD risk, the greatest risk was found in preterm children who also had elevated pantothenate (≥50th percentile), which was true for all three outcomes: ASD (aOR: 5.36, 95% CI: 2.09, 13.75), ADHD (aOR: 3.31, 95% CI: 1.78, 6.16), and other DD (aOR: 3.39, 95% CI: 1.85, 6.24). Conclusions: In this prospective birth cohort, we showed that higher cord pantothenate individually and in combination with higher cysteine or preterm birth were associated with increased risk of ASD and ADHD. More study is needed to explore this biologically plausible pathway.

Is My Child Racist? Supporting Caregivers in Conceptualizing Race for Children.

CASE: M is a 4-year-old White girl whose parents contact their primary care pediatric clinician with a behavioral concern: over the course of several months, M has insisted that she is pregnant with quintuplets. Although some of the quintuplets have light skin tones, others have darker skin tones. When elaborating about the fantasy, M often explains that the babies fight in her tummy, and the Brown babies are "acting badly" by spitting, scratching, and hitting the others. Although M can sometimes provide an explanation for why the Brown babies misbehaved (i.e., they ate chocolate), often she is not able to produce an answer. The child frequently reiterates the same story to her parents, which has left M's parents uncertain how to react.In terms of her life course thus far, M has had typical development and behavior. She has attended all her well-child visits and met the usual developmental milestones. Beyond general development, her exposure to diverse people has been ample because she is from a multiethnic household in which 2 languages are regularly spoken. Outside of her home, she has close Brown and Black friends in her preschool, and the school has discussed race and skin color in an affirming way with the children. At home, she has books that feature children of different skin tones.What advice can M's pediatric clinician offer? How can parents and pediatric clinicians support children who present with race-based thoughts or actions that seem discriminatory?

Hyperphagia and Down Syndrome.

CASE: A.Z. is a 14-year-old young boy with Down syndrome and intellectual disability. As a baby and toddler, A.Z. struggled with swallowing dysfunction and recurrent aspiration, which improved by the time he was school aged. At the age of 2 years, his body mass index (BMI) was 95.98% (Z score 1.75). During his early school-age years, A.Z. began eating a wider variety of foods. As he grew taller and remained active, his BMI improved briefly during this time. Between ages 10 and 12 years, concerns regarding increased appetite and excessive weight gain emerged. His BMI increased from 82.56% (Z score 0.94) to 98.27% (Z score 2.11) during this time. He became insatiable; he ate when he was happy, upset, or bored. He had a compulsive need to eat all day, which escalated while staying home during the COVID pandemic. Despite having complete meals and a variety of snacks, he overate and sought out food and snacks, no matter the time of the day. Food also became a source of contention and a trigger for verbally and physically aggressive behavior when parents attempted to restrict food intake. Behavioral therapy was recommended to address his eating patterns as a part of his behavioral management plan.Over time, many strategies were used, including a token economy reward system, setting firm limits around snacking and meals, creating a food schedule with times and forced choice options, use of coping skill training, a feelings thermometer, and communication supports. These interventions had moderate intermittent success; however, overeating and consequent power struggles continued to be the major challenge reported by the family.He was started on a long-acting stimulant medication daily, intended to address impulsive and aggressive behaviors, and with potential benefit of appetite reduction. However, although there were some improvements in behavior, there was little to no effect noted on his appetite. Of note, he was diagnosed with celiac disease and severe obstructive sleep apnea at this time. A.Z. remained compliant with his gluten-free diet despite the challenges he experienced with food seeking and portion control. Overall, despite making excellent progress in behavioral regulation and performing particularly well in structured settings outside the home (i.e., school or summer camp), A.Z. continued to binge eat and seek out food with his most recent BMI at 98.62% (Z score 2.20).CASE 2: C.J. is a 9-year-old boy with Down syndrome and intellectual disability. As a toddler, C.J. had a brief period of time in which he was noted to overeat or not sense when he was full and subsequently gag or vomit after meals. At age 5 to 6 years, C.J. began demonstrating a more voracious appetite and increased weight gain; his BMI was 99.43% (Z score 2.53). Behavioral strategies, such as food schedules with forced choice options, were recommended. C.J. responded with increased dysregulation to the limit setting. An additional trigger for C.J. was the irregular visitation schedule with his father. He also hid and hoarded food; for example, he often ate food and hid the wrappers in the trash. Locking the refrigerator and cabinets resulted in binging on whatever he could find, such as ketchup packets. If C.J. wanted food during a time outside of his schedule, he was provided a list of alternative activities to choose from. It was recommended that his parent portion foods for him and set clear expectations of eating in the kitchen alone.C.J. was trialed on a short-acting alpha-agonist agent for 1 year to help address some of his behavioral challenges. Despite initial improvement on this regimen, behavioral challenges reemerged, and his eating behaviors worsened, so the medication was stopped. After stopping the medication, C.J. responded well to the limit setting, including regulating his own portion sizes and using a portion control plate. The family believed that the short-acting alpha-agonist worsened his food-seeking behaviors, although this was not clinically apparent. Despite having continued affinity for certain foods and snacks, C.J. was no longer binge eating or hoarding and hiding food. His most recent BMI remained elevated at 99.24% (Z score 2.43).

Developmentally-Trained Primary Care Clinicians: A Pipeline to Improved Access?

OBJECTIVE: The purpose of this study is to decrease wait time and improve access to developmental-behavioral pediatric (DBP) evaluation in children 4 years of age and younger as part of a quality improvement (QI) initiative in an urban safety-net hospital. METHODS: A primary care pediatrician received DBP minifellowship training 6 hours per week for 1 year to become a developmentally-trained primary care clinician (DT-PCC). DT-PCCs then conducted developmental evaluations that consisted of using a Childhood Autism Rating Scale and Brief Observation of Symptoms of Autism to evaluate children 4 years and younger referred within the practice. Baseline standard practice involved a 3-visit model: DBP advanced practice clinician (DBP-APC) intake visit, neurodevelopmental evaluation by a developmental-behavioral pediatrician (DBP), and feedback by a developmental-behavioral pediatrician. Two QI cycles were completed to streamline the referral and evaluation process. RESULTS: Seventy patients with a mean age of 29.5 months were seen. The average days to initial developmental assessment decreased from 135.3 days to 67.9 days with a streamlined referral to the DT-PCC. Of the 43 patients who required further evaluation by a DBP, the average days to developmental assessment reduced from 290.1 to 120.4 days. CONCLUSION: Developmentally-trained primary care clinicians allowed for earlier access to developmental evaluations. Further research should explore how DT-PCCs can improve access to care and treatment for children with developmental delays.

Effect of Family Navigation on Participation in Part C Early Intervention.

OBJECTIVE: Part C Early Intervention (EI) services have been shown to reduce autism symptoms and promote healthy development among young children. However, EI participation remains low, particularly among children from structurally marginalized communities. We investigated whether family navigation (FN) improved EI initiation following positive primary care screening for autism compared to conventional care management (CCM). METHODS: We conducted a randomized clinical trial among 339 families of children (ages 15-27 months) who screened as having an increased likelihood for autism at 11 urban primary care sites in 3 cities. Families were randomized to FN or CCM. Families in the FN arm received community-based outreach from a navigator trained to support families to overcome structural barriers to autism evaluation and services. EI service records were obtained from state or local agencies. The primary outcome of this study, EI service participation, was measured as the number of days from randomization to the first EI appointment. RESULTS: EI service records were available for 271 children; 156 (57.6%) children were not engaged with EI at study enrollment. Children were followed for 100 days after diagnostic ascertainment or until age 3, when Part C EI eligibility ends; 65 (89%, 21 censored) children in the FN arm and 50 (79%, 13 censored) children in the CCM arm were newly engaged in EI. In Cox proportional hazards regression, families receiving FN were approximately 54% more likely to engage EI than those receiving CCM (1.54 (95% confidence interval: 1.09-2.19), P = .02). CONCLUSIONS: FN improved the likelihood of EI participation among urban families from marginalized communities.

Challenging Case: Leveraging Community Partnerships to Address Barriers to Care for Students with Autism.

CASE: Sam is an 11-year-old young boy with autism spectrum disorder (ASD), unspecified anxiety disorder, and attention-deficit/hyperactivity disorder, combined presentation. He was initially diagnosed with ASD at 6 years of age after evaluation by a developmental-behavioral (DB) pediatrician. He presents to the DB pediatrics clinic to reestablish care. He established care with psychiatry 5 months ago after his school referred him to a hospital-school-community telepartnership bridge program following statements of self-harm and numerous concerns with his behavior, including elopement.Sam currently receives special education support under the classifications of "Emotional Disturbance" and "Speech Impairment." His parents report significant challenges with having his medical diagnosis of autism recognized by the school, which has impeded him receiving educational support as a student with autism. This has resulted in Sam being penalized for challenging behaviors related to his neurodevelopmental disorder. He is not currently making meaningful progress in the school setting. Sam currently demonstrates avoidance, physical and verbal aggression, and difficulty adapting to change across settings. In addition to difficulties advocating for more individualized support at school, Sam has never received applied behavior analysis (ABA) therapy because of challenges obtaining insurance approval. There are no additional barriers to accessing care, such as language, geographic, or socioeconomic factors.Sam's visit to reestablish care with DB pediatrics consisted of an individual clinician evaluation model. The Childhood Autism Rating Scale, Second Edition, (CARS-2) and Vineland Adaptive Behavior Scales, Third Edition (Vineland-3), were administered, and Sam continued to meet DSM-5 criteria for ASD following re-evaluation. A new referral for ABA therapy was submitted. Shortly afterward, his family received an insurance denial letter specifying that additional developmental testing was needed before ABA therapy would be approved. His clinician called the insurance company to appeal this decision but was unsuccessful. Sam was then seen by the DB pediatrics embedded psychologist, who completed additional testing, including assessment of cognitive functioning, administration of the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and autism-specific rating scales. This process led to further delays in access to ABA services. Throughout this process, the parents reported feeling helpless and frustrated given the barriers faced in receiving appropriate services. What are your next steps to advocate for supports through the school and insurance company?

Identifying Components of Autism Friendly Health Care: An Exploratory Study Using a Modified Delphi Method.

OBJECTIVES: Autistic individuals report lower health care satisfaction. However, there is currently no set of "best practice" standards about caring for autistic individuals. In this exploratory study, we aim to identify features of Autism Friendly practice according to a sample consisting of mainly professionals whose interests include autism using a modified 3-round Delphi-a method that identifies a consensus view across subject participants. METHODS: Statements about components of an Autism Friendly health care practice were compiled in consultation with the steering committee of an Autism Friendly Initiative at a single, urban academic safety-net hospital. Participants were recruited through our national network of professionals and patients/families mailing list. Examples of invited professionals included researchers, health care workers, and educators. In the first 2 rounds, we distributed electronic surveys to participants, who scored statements from 1 to 9 regarding importance. In round 2, statements that were scored low by all stakeholder groups were eliminated. Seventy-eight participants responded to the first-round survey, and 51 participants responded to the second-round survey. In the third round, 38 participants ranked 16 statements from most to least important. Statements are summarized and presented in the Results section. RESULTS: Topics that emerged from highly ranked statements include environmental/operational modifications (e.g., longer appointment times) and staff training to support autistic patients. CONCLUSION: Highly ranked statements represented previously reported barriers, including the need for staff training and inclusive engagement with the autistic community. The findings can help inform health care organizations to determine priorities when building an Autism Friendly health care practice.

Lifetime Earning Potential and Workforce Distribution in Developmental and Behavioral Pediatrics.

OBJECTIVES: Compare lifetime earning potential (LEP) for developmental and behavioral pediatrics (DBP) to general pediatrics and other pediatric subspecialties. Evaluate association between LEP for DBP and measures of workforce distribution. METHODS: Using compensation and debt data from 2018 to 2019 and a net present value analysis, we estimated LEP for DBP compared to general pediatrics and other pediatric subspecialties. We evaluated potential effects of eliminating educational debt, shortening length of fellowship training, and implementing loan repayment or forgiveness programs for pediatric subspecialists. We evaluated the association between LEP for DBP and measures of workforce distribution, including distance to subspecialists, percentage of hospital referral regions (HRRs) with a subspecialist, ratio of subspecialists to regional child population, and fellowship fill rates. RESULTS: LEP was lower for DBP than for general private practice pediatrics ($1.9 million less), general academic pediatrics ($1.1 million less), and all other pediatric subspecialties. LEP of DBP could be improved by shortening fellowship training or implementing loan repayment or forgiveness programs. LEP for subspecialists, including DBP, was associated with distance to subspecialists (-0.5 miles/$100,000 increase in LEP, 95% confidence interval [CI] -0.98 to -0.08), percentage of HRRs with a subspecialist (+1.1%/$100,000 increase in LEP, 95% CI 0.37-1.83), ratio of subspecialists to regional child population (+0.1 subspecialists/100,000 children/$100,000 increase in LEP, 95% CI 0.04-0.17), and average 2014 to 2018 fellowship fill rates (+1% spots filled/$100,000 increase in LEP, 95% CI 0.25-1.65). CONCLUSIONS: DBP has the lowest LEP of all pediatric fields and this is associated with DBP workforce shortages. Interventions to improve LEP may promote workforce growth.

Using normalization process theory to inform practice: evaluation of a virtual autism training for clinicians.

Background: There is growing demand for developmental and behavioral pediatric services including autism evaluation and care management. Clinician trainings have been found to result in an increase of knowledge and attitudes. This study utilizes Normalization Process theory (NPT) to evaluate a clinician training program and its effects on practice. Methods: The year-long virtual training program about autism screening and care management included didactic portions and case presentations. Focus groups and interviews were conducted with primary care clinicians (n = 10) from community health centers (n = 6) across an urban area five months post-training. Transcripts were deductively coded using NPT to uncover barriers to implementation of autism screening and care, benefits of the training program, and areas for future training. Results: Participants were motivated by the benefits of expanding and improving support for autistic patients but noted this effort requires effective collaboration within a complex network of care providers including clinicians, insurance agencies, and therapy providers. Although there were support that participants could provide to families there were still barriers including availability of behavior therapy and insufficient staffing. Overall, participants positively viewed the training and reported implementing new strategies into practice. Conclusion: Despite the small sample size, application of NPT allowed for assessment of both training delivery and implementation of strategies, and identification of recommendations for future training and practice sustainability. Follow-up focus groups explored participants' practice five months post-program. Variations in participants' baseline experience and context at follow-up to enable application of skills should be considered when using NPT to evaluate clinician trainings.

Interoception in Practice: The Gut-Brain Connection.

Tony is a five and a half-year-old boy who has been a patient in your primary care practice since he was adopted at birth. He has been treated by a child and adolescent psychiatrist for behavioral concerns starting at age 3 years and has been diagnosed with autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD) combined type, anxiety disorder, and insomnia. He presents today with complaints of repeated emesis and refusal to eat or drink over the past 2 weeks and is now dehydrated. Tony was born at 30 weeks' gestational age by vaginal delivery with a birth weight of 4lbs 15oz and was described as minimally responsive at birth. There was known prenatal exposure to tobacco and methamphetamine and inadequate prenatal care. The maternal history is notable for a reported diagnosis of bipolar affective disorder, prostitution, and being unhoused at the time of delivery. Tony received antibiotics after delivery for presumed newborn infections. As an infant, he had kidney reflux, low serum ferritin, insomnia, and failure to thrive. Regarding developmental milestones, Tony was sitting up at 7 months, walking at 14 months, talking at 18 months, and speaking in full sentences by 24 months. When he presented to the psychiatric service at age 3 years, behavioral problems included irritability with destructive rages, excessive fears, separation anxiety, hyperactivity, and impulsivity with a lack of awareness of danger to the extent that he required a safety harness when in public and security locks in the home because of repeated elopements. Tony also had at the time of his initial presentation significant defiance, extreme tantrums, violent aggressive outbursts, cognitive rigidity, repetitive behaviors, resistance to change, frequent nondirected vocalizations, and self-injurious behaviors including slapping himself on the head and biting of his hands and feet. Review of systems includes complaints of frequent abdominal and neck pain, persistent insomnia, night terrors, restrictive eating habits with poor weight gain, and reduced sensitivity to pain. Treatment history included gabapentin and subsequently divalproex for seizure-like episodes (despite negative EEG) described as frequent staring spells with repetitive biting of his lips. Psychotropic medications were risperidone for irritability associated with autism and clonidine extended release for ADHD. He also took melatonin for sleep. During his well-child check at the age of 5 years, Tony is making good progress from a developmental standpoint, has age-appropriate expressive and receptive language skills, is fluent in both English and Spanish, is able to recite the alphabet, counts to 20, has learned to swim, and is demonstrating interest in planets and astrology. He is reported to have a secure attachment to his adoptive parents and is described as emotionally sensitive, caring, kind, considerate, and empathetic. He has good eye contact and can read facial expressions. He is affectionate and protective of his infant sibling, his biological sister, who is also adopted by his parents and now living in the home. Tony made an excellent adjustment to the start of kindergarten and up until this point was responding positively to his psychotropic medication regimen. But then at age five and a half, Tony experienced sudden and unexplained behavioral worsening, which was followed by the onset of recurrent vomiting and refusal to eat or drink. Comprehensive medical workup including upper endoscopy and biopsy resulted in a diagnosis of eosinophilic esophagitis (EoE). What would be your next step?

Raising the Question: Medication Mix-Up or Diversion.

CASE: Max is an 8-year-old boy with autism spectrum disorder and long-standing challenges with sleep maintenance, the latter of which persist despite behavioral intervention and environmental modification. When Max wakes in the early morning hours, he tends to wander the house, which causes his mother to be awake to monitor his safety. Given the impact of Max's fragmented sleep on his functioning and that of his family, you begin a trial of gabapentin liquid to promote sleep maintenance. Soon after, Max's mother reports that he is sleeping through the night, for the first time in his life.Two months later, you receive a message from Max's mother requesting an early refill of his 90-day supply because of having spilled the bottle. You provide a new prescription, and Max's insurance company allows the early refill. Six weeks after that, Max's mother calls to say that she needs another gabapentin prescription because Max has run out. You confirm that she is giving the prescribed dose but are unsure as to why Max is out of medication weeks early. Given these events, you begin to question whether Max's gabapentin prescription is being diverted. What would you do next?

The Importance of Accessible Language for Development in Deaf and Hard of Hearing Children.

CASE: Brady is a 5-year-old boy who was seen in a multidisciplinary clinic for evaluation of deaf and hard of hearing children. Brady was born full-term after an uncomplicated pregnancy. He was referred for audiological evaluation after his newborn hearing screen and was diagnosed with a severe-to-profound bilateral sensorineural hearing difference at age 6 months. He has no other medical history.Brady was referred for developmental evaluation after completing his medical workup and cochlear implantation at an outside institution. No etiologic cause of his hearing difference was identified, and his diagnosis was presumed to be genetic and nonsyndromic. He had previously undergone right cochlear implantation at age 14 months and left cochlear implantation at age 23 months. Brady received speech and language therapy, with an emphasis on spoken language through early intervention, and met all motor and social milestones at appropriate times. Despite therapy, he continued to show delays in meeting language and communication milestones. Given concerns over persistent language delays after cochlear implantation, he underwent an interdisciplinary speech, language, and psychological evaluation at 3 years 4 months old. At the time of his evaluation, he was noted to have robust social skills but significantly delayed expressive and receptive language skills with language use limited to single words.After the initial evaluation, he was enrolled at a school for the deaf with instruction provided in both spoken English and American Sign Language. In follow-up evaluation at age 4 years 8 months, Brady was described as happy, cooperative, and eager to connect socially. It was noted that he had age-appropriate visual spatial cognitive and motor skills and had made some gains compared with prior assessments in both spoken and sign language. Notably, however, his language abilities and most areas of adaptive living skills remained below what would be expected by his developmental age and in some domains plateaued compared with prior assessments. He was able to produce some words and signs and responded to all prompts using only single words or signs and gestures. Brady's parents present today to your multidisciplinary clinic asking to understand why his language has not progressed further and to learn how they can help him reach his full potential.

Do Referral Factors Predict a Probable Autism Spectrum Disorder Diagnosis? A DBPNet Study.

OBJECTIVE: To determine the proportion of children referred to academic medical centers with concerns about autism spectrum disorders (ASDs) who received a probable ASD diagnosis, identify factors predicting ASD diagnosis, and describe the children with ASD concerns who were not found to have autism. METHODS: A total of 55 developmental-behavioral pediatricians (DBP) at 12 academic sites in the DBPNet research network recorded data on ≤15 consecutive new patients. They coded presumed diagnoses after their first visit with the child. RESULTS: Of 784 new visits, 324 (41%) had concern for ASD; of these, 221 (68%) were presumptively ASD+; 103 (32%) were ASD-. In a mixed model accounting for clustering within site and covariates significant in bivariate analysis, significant predictors of receiving a presumptive ASD diagnoses were socialization concerns, languages other than English spoken in the home, and coming for second opinion. Also concern for "other behavior problems" (not mood, oppositionality, anxiety, attention, or repetitive behaviors) predicted not receiving ASD diagnoses. This model was not clinically useful because it misclassified 26.9% of children. ASD- children <4 years old had more language delay and less cognitive impairment and socialization concern than their ASD+ age peers. ASD- children ≥4 years old were more likely to have attention-deficit /hyperactivity disorder (ADHD) and learning disability with normal cognition than their ASD+ age peers. CONCLUSIONS: Two thirds of children referred to academic centers with concern for ASD received a presumptive diagnosis of ASD. While those with ASD were not easily distinguished from those without ASD at referral, virtually all children with ASD concerns had multiple DBP diagnoses made and required DBP follow-up care.

Challenging Case: The Role of Genetic Testing in Complex Autism.

CASE: S is a 12-year-old boy with autism spectrum disorder (ASD), seizure disorder, cerebral palsy, and intellectual disability who presented to the primary care clinician for a preventative care visit.S was born at full term after an unremarkable pregnancy. His developmental delays were first noted at around 8 months, when he could not sit independently and had intermittently poor eye contact. He was referred to Part C Early Intervention and subsequently evaluated by a neurodevelopmental pediatrician, where he was noted to be hypotonic, with delayed motor and cognitive skills. Initial genetics evaluation included karyotype, fragile X testing, Angelman and Prader-Willi DNA fluorescence in situ hybridization probes, POLG sequencing, MECP2 testing, a microarray, creatinine kinase, very long-chain fatty acids, lymphocyte arylsulfatase, urine organic acids, and plasma amino acids, all of which were normal.As time progressed, S continued to have motor and communication delays and developed choreic movements. He also developed episodes concerning for seizure, including periods of staring while awake and episodes of extremity shaking lasting a few seconds with associated eye deviation, which eventually progressed to generalized seizures. He also developed periods of lethargy. Outpatient workup included several EEGs, which were notable for foci in the right frontal and left temporal regions. He has had several brain MRIs showing generalized volume loss and had critical laboratory tests during a period of lethargy, which were unconcerning. He was treated with multiple antiseizure medications. He was diagnosed with ASD at age 5 years because of delayed language, poor social communication, and repetitive behaviors.Over time, S continued to experience global developmental delays and autistic-like behaviors and remained minimally verbal. However, clinicians noted a number of developmental strengths, including a generally positive mood, a willingness to participate in therapy, improved receptive language skills, attachment to his mother, and a love of nature and the outdoors. He participated in a number of therapy modalities including speech/language therapy, occupational therapy, physical therapy, applied behavioral analysis, aqua therapy, partner-assisted scanning, and therapeutic horseback riding.In 2019, whole-exome sequencing was newly covered by the state Medicaid program, and testing was obtained in 2020. Whole-exome sequencing revealed a de novo STXBP1 pathogenic variant c.874C>T (p.Arg292Cys), which is associated with developmental and epileptic encephalopathy. His presentation is consistent with STXBP1 encephalopathy including refractory epilepsy, ASD, intellectual disability, and movement disorders.What are important considerations in genetic testing for children with autism? How does a genetic testing result alter management for clinicians and families?

Importance of Trauma-Informed Practice in Evaluation of Children Diagnosed with Autism Spectrum Disorder.

CASE: As part of a multidisciplinary adoption support clinic, Erin, a 5-year-old girl, adopted approximately 6 months before the clinic visit, presents for postadoption evaluation. Erin was born at full term. Her birth history was significant for reported maternal treatment for liver failure during pregnancy. Her previous medical history included hospitalization for a viral illness at age 2 months, recurrent ear infections, and a fractured forearm. Family history was significant for a maternal history of bipolar disorder, depression, anxiety, borderline personality disorder, and concern for substance abuse; a paternal history of attention-deficit/hyperactivity disorder (ADHD) and depression; and full biological brother with a history of ADHD and oppositional defiant disorder. Erin and her brother lived with their parents until she was approximately 3 years old. At that time, there were concerns for poor hygiene, inconsistent medical care, poor school attendance for her brother, financial instability, and significant neglect. Erin was reportedly confined to her crib for hours at a time. She and her older brother were removed from the home because of concerns for significant neglect and placed into foster care. Approximately 3 months after foster placement, Erin underwent testing because of concerns for abnormal behaviors and possible developmental delays. Symptoms included poor sleep, repetitive behaviors such as head banging, delayed speech that primarily involved grunting, and lack of toilet training. She was hyperactive and aggressive and had poor caregiver attachment. On evaluation, she was small for age, poorly groomed, and easily distracted with poor eye contact and did not tolerate interactions with examiners. Neuropsychological testing consisted of symptom checklists and caregiver interview only because she did not tolerate diagnostic testing. She was diagnosed with autism spectrum disorder and global developmental delay with intellectual and language impairments. Over the following year, Erin was transitioned to a second foster family and was subsequently adopted. She received speech, occupational, and physical therapy, along with trauma-informed therapy. She made significant gains in multiple domains and was able to graduate from trauma-informed therapy after 1 year. On examination, Erin greets you with appropriate eye contact and reports that she is feeling "good." She is verbal and interactive with her brother and parents. She looks to parents for support when asked to participate in the physical examination. She does not display any significant repetitive behaviors. Erin's parents are concerned that her initial diagnoses of autism spectrum disorder and global developmental delay do not accurately reflect her current level of functioning and are afraid she may have been misdiagnosed. How would you proceed with next steps to address these diagnoses?

Disproportionate Representation of Children of Color and Parents with Disabilities in the Child Welfare System: The Intersection of Race/Ethnicity, Immigration Status, and Disability.

CASE: An almost 5-year-old girl is referred to a developmental-behavioral clinician for developmental evaluation because of language and learning concerns. Her developmental screening in the primary pediatrics office showed scores concerning for delays in communication, social-emotional, gross, and fine motor domains. Her mother has concerns about her language. Her mother's primary language is Spanish, but the patient and her siblings speak primarily English. She speaks in short phrases and sentences with grammatical errors. Her mother understands approximately 75% of what she says, and strangers understand approximately 50%. She uses gestures and facial expression, is social and friendly, demonstrates pretend play, and plays well with her siblings and other children her age. She has occasional meltdowns, but there are no other major behavioral concerns. She feeds herself with utensils and is able to dress herself. She toilet trained recently, at about age 4.5 years.She did not receive early intervention before age 3 years and had no previous evaluations. She did not attend preschool or child care. Her mother reported that they were referred to the school district twice, but she had trouble requesting the evaluation.She lives with her parents and 2 brothers. The patient's parents immigrated to the United States from Mexico 7 years ago. They are both farm workers, and extended family members are in Mexico. On reviewing family history, the clinician learns that the patient's mother had trouble learning and attended school until she was 12 years old. She did not receive extra help at school. The child's mother said that she forgets things and "has trouble with reading and writing fast." The patient's 10-year-old brother has an individualized education plan and is in a substantially separate classroom. He has inclusion activities of recess, art, and music. He receives speech-language therapy and academic support for reading and writing. The patient's mother becomes tearful and shares that Child Protective Services was notified because of her inability to request the school evaluation, but a case was not opened.Developmental evaluation reveals expressive language at a 33-month-old level and receptive language at a 39-month-old level. Cognitive testing shows extremely low verbal comprehension, borderline visual spatial skills, and fluid reasoning in the low average range. Working memory and processing speed fall in the borderline range. The clinician learns at a follow-up visit that the patient's mother was evaluated by state disability services and has mild intellectual disability.What is your next step in management? What feedback or resources would you provide to the pediatric clinician and family?