A-27 A Pediatric Case Study of Neurodevelopmental Disorder Associated with Complete Agenesis of the Corpus Callosum

2021 ◽  
Vol 36 (6) ◽  
pp. 1068-1068
Author(s):  
Courtney L Norris ◽  
Alphonso Smith
Keyword(s):  
Corpus Callosum ◽  
Neurodevelopmental Disorder ◽  
Neuropsychological Testing ◽  
Self Regulation ◽  
Attention Problems ◽  
Neurodevelopmental Outcomes ◽  
Neuropsychological Profile ◽  
Increased Risk ◽  
Genetic Abnormalities

Abstract Objective The corpus callosum is a major white matter pathway of the brain that coordinates the transfer of information between both cerebral hemispheres. Children with complete agenesis of the corpus callosum (ACC) are at increased risk for neurodevelopmental disorders, epilepsy, and genetic abnormalities. Method This case study presents the neuropsychological profile of a 6-year-old girl in the 1st grade who was born with complete ACC and presented with a history of attention problems and behavioral-emotional difficulties. Results Neuropsychological testing revealed mild to severe deficits in attention, executive functioning, and self-regulation in the context of average intellectual functioning and broadly average to above-average academic achievement. Conclusions School recommendations included establishing a 504 plan and weekly counseling sessions with the school social worker in order to provide accommodations to support the child’s attention difficulties in the academic setting. Recommendations for genetic testing and ongoing monitoring by the patient’s neurologist were suggested given the higher rates of genetic abnormalities and seizures in children with ACC as these conditions can adversely impact neurodevelopmental outcomes. Medication management, as well as private behavior therapy with a parent-training component, were recommended for interventions to address the child’s deficits with attention and behavioral regulation. This case study demonstrates the need for prompt neuropsychological evaluation for children with ACC in order to more efficiently facilitate access to targeted assessments and treatments that can lead to improved outcomes.

A-40 The Neurocognitive and Behavioral Profile of an Adolescent with in-Utero Exposure to Alcohol

2021 ◽  
Vol 36 (6) ◽  
pp. 1081-1081
Author(s):  
Alphonso Smith ◽  
Courtney Norris
Keyword(s):  
Neuropsychological Assessment ◽  
Adaptive Functioning ◽  
Alcohol Exposure ◽  
In Utero ◽  
Attention Problems ◽  
In Utero Exposure ◽  
Social Emotional ◽  
Neuropsychological Profile ◽  
Increased Risk

Abstract Objective Prenatal alcohol exposure can result in altered brain development that has detrimental effects on children and put them at increased risk for cognitive impairment, sensorimotor deficits, attention problems, behavioral issues, and social–emotional difficulties. Further, adolescents with neurodevelopmental disorders associated with in-utero exposure to alcohol require targeted academic and psychosocial support as they transition into adulthood which emphasizes the need for neuropsychological assessment. Method This case study presents on the neuropsychological profile of a 17-year-old male in the 11th grade who was exposed to alcohol in-utero and was diagnosed with fetal alcohol effects as a young child by his primary care physician. Results Neuropsychological testing revealed a broad range of impairments which included deficits in intellectual functioning (mild disability), adaptive functioning, language, academic achievement, attention, executive functioning, memory, fine/visuomotor skills, and social–emotional functioning. Conclusions Recommendations were made to modify his special education goals by targeting his functional academic skills, adaptive functioning, communication skills, and post-high school transition planning. Recommendations for behavioral interventions were given to his referring psychotherapist to aid in treatment planning. Information on vocational counseling and financial support for individuals with developmental disabilities were provided to the patient’s guardian as well. This case study illustrates the long-lasting neurocognitive and behavioral effects associated with in-utero alcohol exposure and the need for neuropsychological assessment during adolescence in order to reduce secondary issues (e.g., school problems, lack of mental health support, unemployment, and financial hardship) that can occur as these individuals move into adulthood.

scholarly journals PGR - 1 A Pediatric Case Study of Autism Spectrum Disorder Associated with Germinal Matrix-Intraventricular Hemorrhage, Periventricular Leukomalacia, and Cerebral Palsy.

2019 ◽  
Vol 34 (6) ◽  
pp. 827-827
Author(s):  
A Smith ◽  
A Davis
Keyword(s):  
Autism Spectrum Disorder ◽  
Cerebral Palsy ◽  
Intraventricular Hemorrhage ◽  
Periventricular Leukomalacia ◽  
Neuropsychological Testing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Germinal Matrix ◽  
Neuropsychological Profile

Abstract Objective Germinal matrix-intraventricular hemorrhage (GMH-IVH) is a serious complication of prematurity that places infants at risk for damage to important white matter pathways which can result in periventricular leukomalacia (PVL) and ultimately cerebral palsy (CP). GMH-IVH also increases the risk of developmental and intellectual disabilities for preterm infants, highlighting the need for early detection and treatment. Method This case study presents on the neuropsychological profile of a 4-year-old boy who was born micropremature and had a history of multiple hemorrhages, extensive PVL, and CP in the context of significant developmental and social delays. Results Neuropsychological testing revealed severe impairments in intellectual functioning (Stanford Binet-5 FSIQ = 42, Nonverbal IQ = 43, Verbal IQ = 47; Leiter-3 Nonverbal IQ = 41), adaptive skills, language, social cognition, visuomotor abilities, spatial skills, pre-academic skills, and attention/executive functioning. He scored in the significant range on measures specific to Autism Spectrum Disorder (ADOS-2; CARS-2; SCQ) and behavioral-emotional functioning. Lastly, he exhibited intermittent staring behaviors that were concerning for possible seizure activity. Conclusions Recommendations were made to increase special education services for the child and to modify his academic goals. Recommendations were also given to aid in treatment planning for his referring neurologist and clinical interventions (e.g., ABA, social work, speech/language, occupational therapy, and physical therapy). This case study demonstrates the need for early neuropsychological detection and treatment for children with complications of prematurity during this important period of brain development, particularly as there are higher rates of autism in this population. Prompt detection leads to earlier treatment and better outcomes.

scholarly journals A-254 A Pediatric Case Study of Mild Intellectual Disability in the Context of Complex Chiari Malformation, Hydrocephalus, Cleft Palette, and Complex Psychosocial Environment

2020 ◽  
Vol 35 (6) ◽  
pp. 1049-1049
Author(s):  
Haak C ◽  
Chin E
Keyword(s):  
Social History ◽  
Chiari Malformation ◽  
Neuropsychological Testing ◽  
Mild Intellectual Disability ◽  
Clinical Interventions ◽  
Skull Defects ◽  
Neuropsychological Profile ◽  
Congenital Condition ◽  
Visuomotor Skills

Abstract Objective Chiari malformation is a congenital condition involving structural skull defects, causing brain tissue herniation and likely resulting in hydrocephalus. People with these medical conditions are at risk for varied cognitive impairments. Recently, emerging evidence has suggested the co-occurrence of Chiari malformation and cleft palette contributing to increased cognitive challenges, highlighting the importance of introducing interventions in a timely manner. Method This case study presents on the neuropsychological profile of an 11-year-old girl with a medical history of complex Chiari malformation with accompanying hydrocephalus and syringomyelia, and lymphangioma born with cleft palette. Relevant social history includes recent parent separation and unstable home life. Presenting concerns included intermittent hand weakness and headaches status post 5 surgeries related to Chiari malformation and hydrocephalus, inattention/impulsivity, learning difficulties, and increased emotional and behavioral dysregulation. Results Neuropsychological testing revealed impairments in intellectual functioning (WISC-V FSIQ = 64), adaptive skills, attention/executive functioning, language, visuomotor skills, memory, and academic skills. Significant emotional and behavior adjustment problems were indicated, secondary to medical treatment, resulting physical limitations, and psychosocial stressors. Finally, staring spells episodes were observed that were concerning for possible seizure activity. Conclusions Recommendations were given to aid in treatment planning for her referring neurosurgeon alongside clinical interventions (e.g., psychotherapy, social work, speech/language, and occupational therapy). Recommendations related to continued intensive special education services were also provided. This case study demonstrates the need for further understanding cognitive impairment in the context of Chiari malformation with co-occurring hydrocephalus and cleft palette. Multidisciplinary collaboration is essential to facilitate the prompt introduction of appropriate clinical interventions.

scholarly journals Integrated cognitive retraining in agenesis of corpus callosum: a single case study

2010 ◽  
Author(s):  
Rajakumari P. Reddy ◽  
Rajan Jamuna ◽  
Lata Hemchand
Keyword(s):  
Corpus Callosum ◽  
Emotional Processing ◽  
Single Case ◽  
Social Emotional ◽  
Post Intervention ◽  
Agenesis Of Corpus Callosum ◽  
Neuropsychological Profile ◽  
Cognitive Retraining ◽  
Post Assessment

Individuals with Agenesis of corpus callosum (ACC) have deficits in areas of cognitive functions, social, emotional processing and communication. The aims of the study were to examine: (a) the neuropsychological profile pre- and post-intervention; (b) to study the effects of the integrated integrative cognitive retraining in patient with ACC. We employed a single case experimental study with pre- and post-assessment. This design enabled evaluation of changes in the patient in response to the intervention. RR, a 25-year-old with diagnosis of ACC was assessed for poor concentration, memory, academic performance, anxiety, and interpersonal issues. Neuropsychological profile indicated deficits. He underwent six months of cognitive retraining (home & hospital based) and brief cognitive behavior therapy. There was significant improvement post intervention. Integrative Cognitive retraining was efficacious in patient with ACC.

scholarly journals Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

2020 ◽  
Author(s):  
Cole A. Deisseroth ◽  
Aarushi Nayak ◽  
Nathan D. Bliss ◽  
Vanesa Lerma ◽  
Ashley W. LeMaire ◽  
...  
Keyword(s):  
Clinical Outcomes ◽  
Neurodevelopmental Disorder ◽  
Clinical Severity ◽  
Therapeutic Interventions ◽  
Target Sequence ◽  
Specific Class ◽  
Neurodevelopmental Outcomes ◽  
Increased Risk ◽  
Molecular Phenotypes ◽  
The Impact

AbstractHypotonia, Ataxia, and Delayed Development syndrome is a neurodevelopmental disorder caused by heterozygous Early B-Cell Factor 3 (EBF3) loss-of-function variants. Identified in 2016, the full spectrum of clinical findings and the relationship between the EBF3 genotype and clinical outcomes has not been determined beyond its namesake features. We combined a phenotypic assessment of 33 individuals molecularly diagnosed with EBF3 pathogenic variants with a meta-analysis of 34 previously reported individuals. The combined 62 unique individuals enabled comparative cross-sectional phenotype and genotype analysis in the largest cohort to date of affected individuals. Cardinal distinguishing features were identified that facilitate phenotypic stratification for clinical diagnosis. We developed assessment scales to ascertain individuals at risk for pathogenic EBF3 variants, stratify the clinical severity, and connect variant-specific molecular phenotypes to clinical outcomes. Our findings show that a specific class of EBF3 variants affecting the evolutionarily conserved Zinc Finger (ZNF) motif, which is critical for stabilizing the protein interaction with the DNA target sequence, is associated with an increased risk of persistent motor and language impairments. These findings highlight the impact of combining variant-specific molecular phenotypes with comprehensive clinical data to predict neurodevelopmental outcomes and potentially guide personalized decisions for therapeutic interventions.

Corpus Callosum Growth and Neurodevelopmental Outcome Are Negatively Influenced by Systemic Infection in Very Low-Birth-Weight Infants

2021 ◽  
pp. 088307382110162
Author(s):  
Peter Korček ◽  
Zuzana Korčeková ◽  
Ivan Berka ◽  
Jáchym Kučera ◽  
Zbyněk Straňák
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Corpus Callosum ◽  
Very Low Birth Weight ◽  
Neurodevelopmental Outcome ◽  
Systemic Infection ◽  
Cerebral White Matter ◽  
Neurodevelopmental Outcomes ◽  
Long Term Outcome ◽  
Increased Risk

Systemic infection may negatively modulate the development of cerebral white matter and long-term outcome of neonates. We analyzed the growth of corpus callosum (using cranial ultrasonography) and neurodevelopment (Bayley Scales of Infant Development, Third Edition) in 101 very low-birth-weight newborns. We observed significantly reduced corpus callosum length at 3 months of corrected age (44.5 mm vs 47.7 mm, P = .004) and diminished corpus callosum growth (0.07 mm/d vs 0.08 mm/d, P = .028) in infants who experienced systemic infection. The subgroup exhibited inferior neurodevelopmental outcomes with predominant motor impairment. The results suggest that length and growth of corpus callosum might be affected by systemic inflammatory response in preterm newborns. The changes in corpus callosum can contribute to adverse neurodevelopment at 2 years of corrected age. Serial ultrasonographic measurements of the corpus callosum may be suitable to identify preterm infants with increased risk of neurodevelopmental impairment.

A-50 A Comprehensive Neuropsychological Case Study of a Child with Perinatal Hyperbilirubinemia

2019 ◽  
Vol 34 (6) ◽  
pp. 910-910
Author(s):  
P Perez Delgadillo ◽  
L Hernandez ◽  
C Sadurni ◽  
C Santiago
Keyword(s):  
Auditory Processing ◽  
Visual Memory ◽  
Neonatal Jaundice ◽  
Neuropsychological Functioning ◽  
Neuropsychological Testing ◽  
Brain Regions ◽  
Attention Problems ◽  
Attention And Memory ◽  
Uncomplicated Pregnancy ◽  
Neuropsychological Profile

Abstract Objective Neonatal jaundice (hyperbilirubinemia) remains present in 60% of births in the United States1. Current literature links hyperbilirubinemia with neurodevelopmental problems, particularly with attention deficit hyperactivity disorder (ADHD), general learning difficulties, and non-progressive developmental delays. Moderate elevations in bilirubin are also suggested to increase the risk for cognitive, perceptual, motor, and auditory disorders. Imaging studies have shown selective patterns of injury to specific brain regions associated with deficits in executive function, including impulse control and working memory as well as different subtypes of attention problems grounded in reward circuitry system dysfunction in children with bilirubin encephalopathy. Method Neuropsychological functioning of a 12-year old Hispanic female with a history of high levels of perinatal bilirubin, and subsequent developmental and cognitive difficulties in speech, learning, attention and memory as well as problems with socialization and anxiety is presented with the purpose of adding to existing literature. Comprehensive neuropsychiatric interview and neuropsychological testing was completed. Results Results revealed several areas of neurocognitive weaknesses with deficits in areas of intellectual functioning, learning (reading and mathematics), expressive language, visual memory, attention, and auditory processing. Emotional and behavioral measures evidenced significant deficits in social-emotional functioning, particularly with interpersonal skills, sense of adequacy, and self-reliance, which resulted in increased anxiety contributing to cognitive and academic deficits. Conclusions Neuropsychological profile was consistent with cognitive, academic, behavioral and emotional manifestations theoretically associated with neuropathological findings in hyperbilirubinemia. Furthermore, similar to existing literature, cognitive deficits were observed in the absence of a clear cause of neonatal jaundice following a full-term, uncomplicated pregnancy.

Short- and long-term outcomes of preterm spontaneous twin anemia-polycythemia sequence

2020 ◽  
Vol 48 (4) ◽  
pp. 329-334
Author(s):  
Soo Jin Han ◽  
Seung Mi Lee ◽  
Sohee Oh ◽  
Subeen Hong ◽  
Jeong Won Oh ◽  
...  
Keyword(s):  
Cord Blood ◽  
Neonatal Morbidity ◽  
Adverse Outcomes ◽  
Control Group ◽  
Long Term Outcomes ◽  
Neurodevelopmental Outcomes ◽  
Monochorionic Twin ◽  
Increased Risk ◽  
Study Population

AbstractBackgroundIn monochorionic twin pregnancy, placental anastomosis and inter-twin blood transfusion can result in specific complications, such as twin-twin transfusion syndrome (TTTS) and twin anemia-polycythemia sequence (TAPS). It is well established that adverse outcomes are increased in TTTS, but reports on the neonatal and long-term outcomes of TAPS are lacking. The objective of this study was to evaluate the neonatal and neurodevelopmental outcomes in spontaneous TAPS.MethodsThe study population consisted of monochorionic twin pregnancies with preterm birth (24–37 weeks of gestation) between November 2003 and December 2016 and in which cord blood was taken at the time of delivery. According to the result of hemoglobin in cord blood, the study population was divided into two groups: a spontaneous TAPS group and a control group. Neonatal and neurodevelopmental outcomes were compared between the two groups.ResultsDuring the study period, 11 cases were diagnosed as spontaneous TAPS (6.4%). The TAPS group had lower gestational age at delivery and had a higher risk for cesarean delivery. However, neonates with TAPS were not at an increased risk for neonatal mortality and significant neonatal morbidity. In addition, the frequency of severe cerebral lesion during the neonatal period and the risk of cerebral palsy at 2 years of age were not different between the two groups.ConclusionThe spontaneous TAPS diagnosed by postnatal diagnostic criteria was not associated with the increased risk of adverse neonatal and neurodevelopmental outcomes. Further studies are needed to evaluate the morbidity of antenatally diagnosed TAPS.

scholarly journals In Silico Exploration of the Potential Role of Acetaminophen and Pesticides in the Etiology of Autism Spectrum Disorder

Toxics ◽  
2021 ◽  
Vol 9 (5) ◽  
pp. 97
Author(s):  
Tristan Furnary ◽  
Rolando Garcia-Milian ◽  
Zeyan Liew ◽  
Shannon Whirledge ◽  
Vasilis Vasiliou
Keyword(s):  
Autism Spectrum Disorder ◽  
Prenatal Exposure ◽  
Pesticide Exposure ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Biomedical Literature ◽  
Spectrum Disorder ◽  
Biological Processes ◽  
Genetic Associations ◽  
Increased Risk

Recent epidemiological studies suggest that prenatal exposure to acetaminophen (APAP) is associated with increased risk of Autism Spectrum Disorder (ASD), a neurodevelopmental disorder affecting 1 in 59 children in the US. Maternal and prenatal exposure to pesticides from food and environmental sources have also been implicated to affect fetal neurodevelopment. However, the underlying mechanisms for ASD are so far unknown, likely with complex and multifactorial etiology. The aim of this study was to explore the potential effects of APAP and pesticide exposure on development with regards to the etiology of ASD by highlighting common genes and biological pathways. Genes associated with APAP, pesticides, and ASD through human research were retrieved from molecular and biomedical literature databases. The interaction network of overlapping genetic associations was subjected to network topology analysis and functional annotation of the resulting clusters. These genes were over-represented in pathways and biological processes (FDR p < 0.05) related to apoptosis, metabolism of reactive oxygen species (ROS), and carbohydrate metabolism. Since these three biological processes are frequently implicated in ASD, our findings support the hypothesis that cell death processes and specific metabolic pathways, both of which appear to be targeted by APAP and pesticide exposure, may be involved in the etiology of ASD. This novel exposures-gene-disease database mining might inspire future work on understanding the biological underpinnings of various ASD risk factors.

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