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

Weitzman, Carol / Nadler, Cy / Blum, Nathan J / Augustyn, Marilyn

2024 Volume 153, Issue 5

Abstract: 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 ... ...

Abstract	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.
MeSH term(s)	Humans ; Neurodevelopmental Disorders/therapy ; Child ; Adolescent ; Health Services Accessibility ; Consensus
Language	English
Publishing date	2024-03-28
Publishing country	United States
Document type	Journal Article ; Consensus Development Conference ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	207677-9
ISSN	1098-4275 ; 0031-4005
ISSN (online)	1098-4275
ISSN	0031-4005
DOI	10.1542/peds.2023-063809
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Article ; Online: Hyperphagia and Down Syndrome.

Sharma, Aanchal / Baumer, Nicole / Augustyn, Marilyn

Journal of developmental and behavioral pediatrics : JDBP

2023 Volume 44, Issue 6, Page(s) e444–e446

Abstract: 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 ... ...

Abstract	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).
MeSH term(s)	Male ; Humans ; Child ; Child, Preschool ; Adolescent ; Down Syndrome/complications ; Intellectual Disability ; COVID-19 ; Hyperphagia ; Weight Gain
Language	English
Publishing date	2023-06-22
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	603379-9
ISSN	1536-7312 ; 0196-206X
ISSN (online)	1536-7312
ISSN	0196-206X
DOI	10.1097/DBP.0000000000001199
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Book ; Online: The Zuckerman Parker handbook of developmental and behavioral pediatrics for primary care

Zuckerman, Barry S. / Augustyn, Marilyn / Caronna, Elizabeth B.

a handbook for primary care

2011

Abstract: Zsfg.: "The thoroughly updated Third Edition of The Zuckerman Parker Handbook of Developmental and Behavioral Pediatrics for Primary Care provides practical guidance on diagnosing and treating children with developmental and behavioral problems in the ... ...

Title variant	Handbook of developmental and behavioral pediatrics for primary care
Author's details	edited by Marilyn Augustyn, Barry Zuckerman, Elizabeth B. Caronna
Abstract	Zsfg.: "The thoroughly updated Third Edition of The Zuckerman Parker Handbook of Developmental and Behavioral Pediatrics for Primary Care provides practical guidance on diagnosing and treating children with developmental and behavioral problems in the primary care setting. Written in outline format, this popular handbook enables readers to easily find the information they need to make diagnostic and management decisions. Recommended readings for both physicians and parents are included. Coverage ranges from everyday problems such as biting and social avoidance to serious and complex psychiatric disorders such as anorexia and depression. This edition includes new chapters on dealing with difficult child behavior in the office; alternative therapy for autism spectrum disorders; treatment of autism spectrum disorders; oppositional defiant disorder; bilingualism; health literacy; incarcerated parents; and military parents. A companion website includes the fully searchable text"
Keywords	Developmental disabilities - diagnosis ; Developmental disabilities - therapy ; Child behavior disorders - diagnosis ; Child behavior disorders - therapy ; Handbooks
Language	English
Size	1 Online-Ressource
Edition	3rd ed.
Publisher	Wolters Kluwer/Lippincott Williams & Wilkins Health
Publishing place	Philadelphia
Document type	Book ; Online
Note	Rev. ed. of: Developmental and behavioral pediatrics / edited by Steven Parker, Barry Zuckerman, Marilyn Augustyn. 2nd ed. 2005 ; Includes bibliographical references and index
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
ISBN	978-1-608-31914-5 ; 1-608-31914-8
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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

Gleason, Erica / Malik, Kristina / Sannar, Elise / Kamara, Dana / Serrano, Verenea / Augustyn, Marilyn

Journal of developmental and behavioral pediatrics : JDBP

2024 Volume 45, Issue 2, Page(s) e176–e179

Abstract: 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 ... ...

Abstract	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?
MeSH term(s)	Infant ; Humans ; Male ; Gabapentin ; Quality of Life ; Clonidine ; Nortriptyline ; Sleep Apnea, Obstructive ; Sleep Wake Disorders/diagnosis ; Sleep Wake Disorders/etiology ; Sleep Wake Disorders/therapy ; Sleep ; Dyskinesias ; Iron ; Seizures ; Protein-Arginine N-Methyltransferases ; F-Box Proteins
Chemical Substances	Gabapentin (6CW7F3G59X) ; Clonidine (MN3L5RMN02) ; Nortriptyline (BL03SY4LXB) ; Iron (E1UOL152H7) ; FBXO11 protein, human (EC 2.1.1.319) ; Protein-Arginine N-Methyltransferases (EC 2.1.1.319) ; F-Box Proteins
Language	English
Publishing date	2024-01-30
Publishing country	United States
Document type	Journal Article
ZDB-ID	603379-9
ISSN	1536-7312 ; 0196-206X
ISSN (online)	1536-7312
ISSN	0196-206X
DOI	10.1097/DBP.0000000000001251
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Book ; Online: Developmental and behavioral pediatrics

Parker, Steven / Zuckerman, Barry S. / Augustyn, Marilyn

a handbook for primary care

2005

Author's details	edited by Steven Parker, Barry Zuckerman, Marilyn Augustyn
Keywords	Developmental disabilities - diagnosis ; Developmental disabilities - therapy ; Child behavior disorders - diagnosis ; Child behavior disorders - therapy ; Handbooks
Language	English
Size	1 Online-Ressource (xxix, 466 Seiten), Illustrationen
Edition	2nd ed.
Publisher	Lippincott Williams & Wilkins
Publishing place	Philadelphia
Document type	Book ; Online
Note	Rev. ed. of: Behavioral and developmental pediatrics. 1995 ; Includes bibliographical references and index
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
ISBN	978-0-7817-1683-3 ; 0-7817-1683-7
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Interoception in Practice: The Gut-Brain Connection.

Genovese, Ann / Moore, Trevena / Haynes, Pete Charlie / Augustyn, Marilyn

Journal of developmental and behavioral pediatrics : JDBP

2022 Volume 43, Issue 8, Page(s) 489–491

Abstract: 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 ... ...

Abstract	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?
MeSH term(s)	Adolescent ; Autism Spectrum Disorder ; Brain ; Child, Preschool ; Clonidine ; Female ; Ferritins ; Gabapentin ; Humans ; Infant, Newborn ; Interoception ; Male ; Melatonin ; Methamphetamine ; Pregnancy ; Risperidone ; Sleep Initiation and Maintenance Disorders ; Valproic Acid
Chemical Substances	Methamphetamine (44RAL3456C) ; Valproic Acid (614OI1Z5WI) ; Gabapentin (6CW7F3G59X) ; Ferritins (9007-73-2) ; Melatonin (JL5DK93RCL) ; Risperidone (L6UH7ZF8HC) ; Clonidine (MN3L5RMN02)
Language	English
Publishing date	2022-08-30
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	603379-9
ISSN	1536-7312 ; 0196-206X
ISSN (online)	1536-7312
ISSN	0196-206X
DOI	10.1097/DBP.0000000000001121
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Article ; Online: Challenging Case: Caregiver-Fabricated Illness Masquerading as Autism Spectrum Disorder.

Schlegel, Sarah / Eisenberg, Dana Brunell / Caneira, Laura / Augustyn, Marilyn

Journal of developmental and behavioral pediatrics : JDBP

2022 Volume 44, Issue 1, Page(s) e66–e68

MeSH term(s)	Humans ; Autism Spectrum Disorder/diagnosis ; Caregivers ; Parents
Language	English
Publishing date	2022-11-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	603379-9
ISSN	1536-7312 ; 0196-206X
ISSN (online)	1536-7312
ISSN	0196-206X
DOI	10.1097/DBP.0000000000001142
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Article ; Online: Raising the Question: Medication Mix-Up or Diversion.

Reilly, Marie / McGivney, Christine / Christiansen, Audrey / Augustyn, Marilyn

Journal of developmental and behavioral pediatrics : JDBP

2022 Volume 43, Issue 6, Page(s) 373–374

Abstract: 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 ... ...

Abstract	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?
MeSH term(s)	Autism Spectrum Disorder/drug therapy ; Behavior Therapy ; Child ; Female ; Gabapentin ; Humans ; Male ; Sleep
Chemical Substances	Gabapentin (6CW7F3G59X)
Language	English
Publishing date	2022-05-27
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	603379-9
ISSN	1536-7312 ; 0196-206X
ISSN (online)	1536-7312
ISSN	0196-206X
DOI	10.1097/DBP.0000000000001101
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Article ; Online: Is My Child Racist? Supporting Caregivers in Conceptualizing Race for Children.

Carrasco, Veronica Ilene / Solgi, Mohadeseh / Davis, Aaron / Chavis, Antwon / Zuckerman, Katharine / Augustyn, Marilyn

Journal of developmental and behavioral pediatrics : JDBP

2023 Volume 44, Issue 5, Page(s) e394–e396

Abstract: 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 ... ...

Abstract	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?
MeSH term(s)	Female ; Child ; Humans ; Child, Preschool ; Caregivers ; Parents ; Problem Behavior
Language	English
Publishing date	2023-06-05
Publishing country	United States
Document type	Journal Article
ZDB-ID	603379-9
ISSN	1536-7312 ; 0196-206X
ISSN (online)	1536-7312
ISSN	0196-206X
DOI	10.1097/DBP.0000000000001196
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Article ; Online: Congenital Blindness and Autism Spectrum Disorder.

Conrad, Cassandra / Linnea, Kate / Augustyn, Marilyn

Journal of developmental and behavioral pediatrics : JDBP

2021 Volume 42, Issue 2, Page(s) 163–165

Abstract: Case: Emily is a 10-year-old girl who is in fifth grade. She has known congenital blindness secondary to septo-optic dysplasia with bilateral optic nerve hypoplasia and precocious puberty. Emily was referred to a Developmental-Behavioral Pediatrics ... ...

Abstract	Case: Emily is a 10-year-old girl who is in fifth grade. She has known congenital blindness secondary to septo-optic dysplasia with bilateral optic nerve hypoplasia and precocious puberty. Emily was referred to a Developmental-Behavioral Pediatrics clinic for concerns of academic, social, and language challenges.Emily was born at term gestation after an uncomplicated pregnancy. At 4 months of age, she underwent ophthalmologic evaluation because of nystagmus, reduced visual tracking and response to light, and increased startle response to touch. An magnetic resonance imaging of the brain and orbits demonstrated bilateral hypoplastic optic nerves and the absence of posterior pituitary. Subsequent endocrinological evaluation for pituitary function was reassuring. Emily's early developmental milestones were delayed across all domains. She participated in early intervention programming including speech/language, physical, and occupational therapy with interval improvement in skills. She also received supports for low vision. In the elementary school, she received supports and services for low vision in a general education classroom. It was observed that Emily had reduced interest in her peers, a strong preference for routine, and distinctive play interests. As elementary school progressed, Emily had increasing challenges with academic achievement, despite performing well on formal testing in second grade.At a recent ophthalmology visit, Emily's best-corrected visual acuity was noted to be 20/800 in each eye.Neuropsychological testing was completed with visual accommodation and administration of measures with minimal visual requirements. Cognitive testing revealed variable verbal intellect and language skills. Academic testing revealed strong reading abilities and a relative weakness in math. Adaptive measures were notable for reduced function and highlighted social vulnerabilities. Parent measures regarding mood and behavior were not concerning.Emily's speech was noted to have a very distinctive prosody with notable response latency. Echolalia and scripting were appreciated, and Emily often asked about names and used made-up words. When excited, Emily flapped her arms and hands, jumped up and down, or clapped her hands quickly. Socially, Emily was engaged and seemed eager to please. She was able to participate in back-and-forth conversation. Although she often responded to social bids, she frequently directed the conversation to her own areas of interest. Emily looked in the direction of the examiner when talking to the examiner and when the examiner spoke. Although a diagnosis of autism spectrum disorder is under consideration, what special considerations are necessary in the context of congenital blindness?
MeSH term(s)	Autism Spectrum Disorder/complications ; Blindness ; Child ; Early Intervention, Educational ; Female ; Humans
Language	English
Publishing date	2021-01-15
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	603379-9
ISSN	1536-7312 ; 0196-206X
ISSN (online)	1536-7312
ISSN	0196-206X
DOI	10.1097/DBP.0000000000000905
Database	MEDical Literature Analysis and Retrieval System OnLINE

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