Juan is a 5-year-old boy who has been followed by a developmental-behavioral pediatrician and pediatric neuropsychologist since being diagnosed with language delay and autism spectrum disorder at age 2 years. He is otherwise healthy and was born at term after a healthy pregnancy. His primary language is Spanish, and he has minimal interactions in English.
View Article and Find Full Text PDFGretta is a 3.5-year-old girl with a history of congenital cytomegalovirus, congenital bilateral profound sensorineural hearing loss (SNHL), and bilateral vestibular dysfunction, resulting in frequent falls. She underwent cochlear implantation at 12 months of age and was diagnosed with autism spectrum disorder at 2.
View Article and Find Full Text PDFNick is a 5-year-old boy who began displaying self-stimulating behaviors and decreased social interactions shortly before turning 3 years. At the age of 3.5 years, he was diagnosed with autism spectrum disorder by a local developmental-behavioral pediatrician.
View Article and Find Full Text PDFJ Dev Behav Pediatr
January 2024
Jay is a 6-year-old boy who was referred to a multidisciplinary developmental clinic for evaluation because of speech/language delays and challenging behaviors. He attends kindergarten with an Individualized Education Program (IEP) supporting developmental challenges with speech/language, motor, and academic skills.Jay was reportedly born full-term after an uneventful pregnancy and lived with his biological family for several months before transitioning to institutional care.
View Article and Find Full Text PDFJ Dev Behav Pediatr
November 2023
Jimmy is a 13-year-old adolescent boy who was diagnosed with Down syndrome (trisomy 21) prenatally. Jimmy is the only individual with Down syndrome in the small, rural community where he lives with his parents. He has mild sleep apnea, and his gross and fine motor developmental milestones were generally consistent with those expected among children with Down syndrome.
View Article and Find Full Text PDFMaria 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.
View Article and Find Full Text PDFAdam is a 14-year-old adolescent boy with hearing loss who presented to the pediatric neurology clinic accompanied by his father for evaluation of new-onset left hand tremor for a duration of 1 month. An American Sign Language interpreter was present and used throughout the visit.Adam has bilateral sensorineural hearing loss related to premature birth at 28 weeks' gestation.
View Article and Find Full Text PDFGillian is a 7-year-old nonverbal, internationally adopted girl with significant visual impairment (sees shadows and objects with high contrast), moderate-severe hearing loss, autism spectrum disorder, profound intellectual disability, and a seizure disorder. She resided in an orphanage until age 4 years when she was adopted by her mother. She is referred to the multidisciplinary team in developmental-behavioral pediatrics by her gastroenterologist, who is managing her constipation, for evaluation and management of self-injurious behavior that occurs before bowel movements.
View Article and Find Full Text PDFJ Dev Behav Pediatr
December 2022
The mother of an 18-month-old boy contacted the developmental and behavioral pediatrics clinic to request an evaluation because of concerns that her son is not using any words and only recently began walking. The child's mother became upset when she was notified that the clinic policy requires receipt of a formal request for evaluation from the primary care physician and that the first available appointment was in 9 months. Later that day, the child's grandmother contacted the clinic and reported that she is a member of the Donor Society affiliated with the university/medical system.
View Article and Find Full Text PDFJ Dev Behav Pediatr
September 2022
Zac is a 13-year-old boy who presented with his parents to developmental-behavioral pediatrics seeking diagnostic clarity. He was born by vaginal delivery at full term after an uncomplicated pregnancy. Developmental milestones were met at typical ages until he was noted to have language delay and to be hyperactive and impulsive on entering preschool at age 4 years.
View Article and Find Full Text PDFRachel is a 10-year-old White girl with attention-deficit/hyperactivity disorder and a history of trauma who presented for evaluation by Dr. Narayanaswamy, a developmental-behavioral pediatrician. A pediatric resident observed the visit with permission from Rachel's parents.
View Article and Find Full Text PDFBenjamin is a 9-month-old, former 36-week gestation infant who presented to the high-risk infant follow-up clinic with parental concern for developmental regression. His mother reported that Benjamin seemed to be developing typically, but over the past 2 months, he has lost the ability to visually track objects, is not as engaged with her as he once was, and now only rarely makes babbling sounds. His mother also reported episodes of intermittent "bursts" of stiffening of his extremities and brief staring spells.
View Article and Find Full Text PDFZoe 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.
View Article and Find Full Text PDFBilly 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.
View Article and Find Full Text PDFJulia is a 13-year-old White adolescent girl who was referred for psychological counseling given concerns related to mood, nonadherence, and adjustment secondary to her new diagnosis of type 1 diabetes. The family lives in a rural town located several hours from the academic medical center where she was diagnosed. After several months on a waitlist, the family was contacted to schedule a telehealth appointment with a predoctoral psychology trainee.
View Article and Find Full Text PDFSam is a 20-year-old young man with intermittent gastritis, autism spectrum disorder, and intellectual disability who was admitted to the hospital because of nutritional concerns. His parents have legal guardianship and report that he has had increasing frequency of refusal to eat, resulting in a 15-pound weight loss over the past 3 months. On admission, a multidisciplinary team including specialists in gastroenterology, nutrition, feeding (behavioral and mechanical), psychiatry, palliative care, and social work was engaged to develop an evaluation and care plan.
View Article and Find Full Text PDFCase: Brian is a 6-year-old boy who was diagnosed with autism spectrum disorder (ASD) and global developmental delay at age 2. He has no other health conditions of note. Brian lives with his parents and an older brother, who also has ASD, in a rural area 2 hours from the center where he was diagnosed.
View Article and Find Full Text PDFJoseph is a 20-month-old boy who was thriving and developing well before a 4-day hospitalization for paralytic ileus at 11 months of age. Joseph is the first child born to parents who immigrated to the United States from Southeast Asia 3 years ago. Before the hospitalization, Joseph consumed 3 meals and 480 to 600 mL of milk daily.
View Article and Find Full Text PDFZahid is a 10-year-old boy who moved to the United States 18 months ago with his parents and 3 younger siblings. He and his family are refugees from Syria. Zahid was born in Syria after an uncomplicated pregnancy and delivery.
View Article and Find Full Text PDFCarl is a 12-year-old boy midline, with neurologic malformation, ataxia, bilateral strabismus with presumed residual visual impairment after surgical repair, and intellectual disability. He was referred to developmental-behavioral pediatrics for evaluation of possible autism spectrum disorder (ASD).Carl had a benign prenatal course and was born via spontaneous vaginal delivery at term.
View Article and Find Full Text PDFSusie is a 10-year-old girl who is followed by a developmental-behavioral pediatrician for attention-deficit/hyperactivity disorder (ADHD), combined type and challenging behaviors. Susie has been treated with extended-release methylphenidate HCl 36 mg daily and extended-release guanfacine 1 mg daily for the past year. Susie attended an evidence-based summer treatment program for ADHD for 8 weeks over the summer, and the family has continued to attend monthly behavioral therapy visits with a local child psychologist.
View Article and Find Full Text PDFKevin is a 12-year-old boy with autism spectrum disorder, intellectual disability (nonverbal IQ scores in mid-40s), and attention-deficit/hyperactivity disorder who has been followed up by a developmental-behavioral pediatrician (DBP) and a child psychologist for medication and behavioral management since he was 4 years old. Kevin was placed in the care of his great-great-aunt shortly after he turned 2 years of age because of concerns of neglect. She is now his legal guardian.
View Article and Find Full Text PDFJ Dev Behav Pediatr
September 2020
Kyle is a 10-year-old boy with Down syndrome and intellectual disability who is being followed up by a developmental behavioral pediatrician for attention-deficit hyperactivity disorder (ADHD) and anxiety. Kyle was initially taking a long-acting liquid formulation of methylphenidate for ADHD and fluoxetine for anxiety. Several months ago, the liquid formulation was on back order, and the methylphenidate formulation was changed to an equal dose of a long-acting capsule.
View Article and Find Full Text PDFNeurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) can enable diagnosis of NDD, but their clinical and cost-effectiveness are unknown.
View Article and Find Full Text PDFAs the prevalence of autism spectrum disorders increases, practitioners across the state of Missouri face an increasing need to understand and provide evidence-based clinical care for these children and families. We describe the breadth of diagnosis and treatment services offered at Children's Mercy Hospital (Kansas City, Missouri), one of the designated Missouri Autism Centers, to demonstrate a model of implementation for evidence-based practice. Finally, we discuss relevant clinical considerations and provide resources for physicians to assist in the care and education of their patients.
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