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82 Behavioral, Emotional, and Adaptive Functioning in a Pediatric anti-NMDARE Population
- Madeline R King, Marie C McGrath, Ashley Higgins, Nina Hattiangadi Thomas
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- Journal:
- Journal of the International Neuropsychological Society / Volume 29 / Issue s1 / November 2023
- Published online by Cambridge University Press:
- 21 December 2023, pp. 74-75
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Objective:
Anti-N-methyl-D-aspartate receptor encephalitis (anti-NMDARE) is a complex, yet treatable autoimmune disorder characterized by a fairly abrupt onset of a constellation of symptoms attributable to diffuse brain dysfunction (Tarantino et al., 2021). Despite the potential for a severe disease course, most patients have a favorable outcome with substantial recovery (Dalmau et al., 2011; Titulaer et al., 2013). Nevertheless, there is limited literature discussing the long-term outcomes in patients with anti-NMDARE, particularly in pediatric patients. The primary objective of this study is to examine and describe behavioral, emotional, adaptive, and executive functioning outcomes in pediatric and young adult patients with this disease. This study also sought to provide information on the perceived health-related quality of life (HRQoL) of patients and their parents and investigate the impact of anti-NMDARE on parents and family functioning.
Participants and Methods:All individuals known to have been diagnosed and treated for anti-NMDARE at The Children’s Hospital of Philadelphia (CHOP) between January 1, 2005, and October 1, 2020, were contacted with both patients and their parents/guardians invited to participate. Eighteen pediatric patients between the ages of 6 and 26 and/or their parents/caregivers participated in the study. Of the 18 patients represented in the sample, 50% were white/Caucasian, and 67% were female. The mean duration of time since symptom onset was 7.1 years. Primary outcomes were measured through standardized questionnaires of emotional, behavioral, and adaptive functioning (BASC-3) and executive functioning (BRIEF2 or BRIEF-A). Secondary outcomes related to family functioning and HRQoL were measured through (PedsQL™ and PedsQL™ Family Impact Module.)
Results:All aggregate T-scores for the BASC and BRIEF placed children with anti-NMDARE within an age-appropriate range regarding behavioral, emotional, adaptive, and executive functioning outcomes. Children with anti-NMDARE were not found to have lower HRQoL compared to their healthy same-age peers. Moreover, parents of children with anti-NMDARE did not endorse a prolonged impact of this illness on family functioning and adjustment.
Conclusions:This study aimed to better understand the neurobehavioral profile and the long-term outcomes of children diagnosed with anti-NMDARE, with the ultimate goal of advancing understanding of this encephalitis. Consistent with findings from several reviewed studies on long-term follow-up, the present study suggests that most children with a history of anti-NMDARE show good functional recovery over time. However, data on the neurobehavioral sequelae, quality of life, and adaptive behavior in patients diagnosed with anti-NMDARE are still sparse, especially at pediatric age. In order to understand and learn to manage the needs of patients with anti-NMDARE, particularly regarding the impact this disease can have on daily life and school performance, additional neuropsychological research involving larger samples, longitudinal studies, and increased methodological consistency is required.
55 The Neurocognitive Profile of a Child with Rubinstein-Taybi Syndrome (RSTS-Type 2)
- Rachel Canella, Nina Hattiangadi Thomas
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- Journal:
- Journal of the International Neuropsychological Society / Volume 29 / Issue s1 / November 2023
- Published online by Cambridge University Press:
- 21 December 2023, pp. 660-661
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Objective:
Rubinstein-Taybi Syndrome (RSTS) is a rare multiple congenital autosomal dominant disorder, with an incidence of roughly 1/125,000 live births (Milani et al., 2015). RSTS is characterized by several typical somatic characteristics and developmental disabilities. Common neurological findings in patients with RSTS include mild or moderate intellectual impairment and delays in gross motor development (Taupiac et al., 2021; Hamilton et al., 2016). Additional characteristics observed among individuals with RSTS include hyperactivity, abnormalities in expressive language, inattention, motor difficulties, noise intolerance, maladaptive behaviors, and fewer modes of communication (Waite et al., 2015). Due to the condition’s rarity, very few studies have investigated the cognitive profiles of RSTS patients with clinical features of EP300 (Type 2; Morel et al., 2018) in effected youth. This case study represents the first reported comprehensive neuropsychological description to our knowledge of an individual with this condition.
Participants and Methods:Participant: The participant is an 8-year, 4-month-old young girl referred for neuropsychological evaluation. LX was diagnosed with failure to thrive due to her small size, although she met all developmental milestones on time. LX was diagnosed with RSTS, Type 2 through genetic testing and blood work following concerns about small stature, microcephaly discovered on an MRI, and feeding difficulties. A 4kb deletion of 22q13.2 which contains exon 2 of EP300 was identified. Method: Medical and school records review, a clinical interview with LX and her family, neuropsychological assessment, and parent-and teacher-report questionnaires were used to assess functioning. Raw scores were standardized for comparison against age- and (where appropriate) gender-matched peers.
Results:In addition to her medical diagnoses of RSTS, Type 2, and her prior diagnosis of ADHD - Combined Subtype, LX also met diagnostic criteria for Specific Learning Disability with Impairment in Reading and a Mixed Receptive-Expressive Language Disorder. LX also met criteria for Encephalopathy as characterized by weakness in visual perception, visuospatial judgment and reasoning, and working memory. LX demonstrated adaptive functioning weaknesses in domains such as self-direction, and self-care, while communication skills were reported to be average. Overall, LX’s current levels of general cognitive ability and adaptive functioning were consistent with Borderline Intellectual Functioning; however, the diagnosis was deferred at present. Parents and teachers reported difficulties with peer relationships, hyperactivity, and aggression, consistent with known features of this condition. Strengths were noted in verbal and nonverbal reasoning, spelling, math calculation, verbal and visual memory, and improvement in attention with medication, which all fell within the broadly average range of functioning.
Conclusions:LX’s presentation and pattern of neuropsychological findings are consistent with the current conceptualization of development in RSTS, Type 2, but reflect a more nuanced clinical picture. In particular, although general cognitive ability was borderline overall, deficits were largely circumscribed to spatial reasoning, with broadly average verbal and nonverbal reasoning abilities. This case highlights the importance of comprehensive neuropsychological testing of patients with RSTS. Reporting of general cognitive ability scores alone may obscure underlying patterns of relative strengths and weaknesses that have important ramifications for both targeted interventions and for a more positive prognosis related to functioning in academic, home, and community environments.