A-64 Neuropsychological Assessment in Bilateral Perisylvian Polymicrogyria: A Tool for Data-Driven Intervention

2021 ◽  
Vol 36 (6) ◽  
pp. 1106-1106
Author(s):  
Melissa Grow ◽  
Stephanie Culotta
Keyword(s):  
Neuropsychological Assessment ◽  
Verbal Memory ◽  
Neurological Disorder ◽  
Stimulant Medication ◽  
Genetic Disorder ◽  
Fine Motor ◽  
Speech Articulation ◽  
Neuropsychological Profile ◽  
Eeg Abnormalities

Abstract Objective This case study examined neurocognitive features associated with a rare genetic/neurological disorder impacting the cerebral cortex. Bilateral perisylvian polymicrogyria (BPP) is characterized by abnormal embryonic growth affecting both sides of the brain near the Sylvian fissure. BPP occurs randomly though researchers suspect an underlying genetic abnormality that may have autosomal recessive inheritance. Neurodevelopmental manifestations include neurocognition marked by EEG abnormalities, impaired motor function, and deficits in speech articulation, language development, learning and memory, and adaptive skills. Method A 13-year 7-month-old male with BPP, detected at 24 months by MRI, was seen for neuropsychological assessment to guide habilitative, academic and adaptive interventions. Relevant medical history includes stimulant medication and pharyngeal flap surgery. Parental concerns include the provision of appropriate special education services and withdrawal behaviors. Results Assessment revealed a complex neuropsychological profile characterized by nonverbal versus verbal intellectual strengths, receptive-expressive language impairment, underlying deficits in phonemic awareness, diminished fine motor speed, and diminished verbal fluency. Verbal list learning, semantic memory, and attention were intact. Mild elevations were evident for anxiety symptoms. Conclusion BPP, a rare genetic disorder, represents significant challenges for affected children. In this case study, a 13-year 7-month-old youngster’s assessment revealed underlying neurocognitive and neuromotor deficits most pronounced in aspects of language, speech articulation, select domains of executive functioning and academic skills. Areas of strength, including verbal memory and semantic recall, were indicated and merit consideration in developing appropriate interventions. This case study illustrates the value of neuropsychological assessment in guiding therapeutic interventions, pharmacotherapy, and appropriate educational services in this rare neurological disorder.

scholarly journals Pitt-Hopkins Syndrome: A Unique Case Study

2018 ◽  
Vol 24 (9) ◽  
pp. 995-1002 ◽  
Author(s):  
Alexander Tan ◽  
Kimberly Goodspeed ◽  
Veronica Bordes Edgar
Keyword(s):  
Cognitive Abilities ◽  
Genetic Disorder ◽  
Autism Spectrum ◽  
Fine Motor ◽  
Medical Comorbidities ◽  
Severe Intellectual Disability ◽  
Whole Exome ◽  
Independent Ambulation ◽  
Present Case Study

AbstractObjectives: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Most cases are characterized by severe intellectual disability, absent speech, motor delays, and autism spectrum disorder. Many have abnormal brain imaging, dysmorphic facial features, and medical comorbidities: myopia, constipation, epilepsy, and apneic spells. The present case study expands existing understanding of this disorder by presenting a unique phenotype with higher cognitive abilities and fewer medical comorbidities. Methods: The present case study reports on a 13-year-old, Caucasian male with a recent diagnosis of PTHS following genetic testing (i.e., whole exome sequencing). He was referred for a neuropsychological evaluation to document his neurocognitive functioning to assist with intervention planning. Results: Evaluation of intellectual, attention/executive, memory, visual-motor/fine-motor, academic, adaptive, and emotional/behavioral functioning revealed global impairment across all areas of functioning. However, he demonstrated abilities beyond what has been detailed in the literature, including use of full sentences, capacity to learn and solve novel problems, basic academic functioning, and independent ambulation. Conclusions: Children with PTHS may demonstrate a spectrum of abilities beyond what has been documented in the literature thus far. Failure to recognize this spectrum can result in late identification of an accurate diagnosis. (JINS, 2018, 24, 995–1002)

A-36 Case Study of Cerebellar Cognitive Affective Syndrome in 17-Year-Old Male with Cerebellar Arachnoid Cyst

2021 ◽  
Vol 36 (6) ◽  
pp. 1077-1077
Author(s):  
Laura Nicholson ◽  
Elizabeth Marston ◽  
Christopher Haak ◽  
Nicole Cruz
Keyword(s):  
Arachnoid Cyst ◽  
Visual Memory ◽  
Comprehensive Evaluation ◽  
Mass Effect ◽  
Intellectual Ability ◽  
Fine Motor ◽  
Cerebellar Cognitive Affective Syndrome ◽  
Neuropsychological Profile ◽  
Minimal Mass

Abstract Objective Arachnoid cysts are often congenital and asymptomatic, however, they may contribute to neurocognitive symptoms when there is a mass effect on the brain. This case study describes how a 17-year-old with cerebellar arachnoid cyst, and minimal mass effect exhibited symptoms of cerebellar cognitive affective syndrome (CCAS), which has been mostly associated with brain tumor or injury in prior research. Method In this case study, a posterior cerebellar arachnoid cyst (midline) was identified incidentally (via CT scan and later MRI) following a panic attack associated with face twitching, motor tremors, and clumsiness. Background history was collected via medical records, neurologist consultation, and parent and patient interview. Patient history was significant for speech, language, motor, and academic delays. Results Results of a comprehensive evaluation revealed deficits in perceptual reasoning, visual memory, fine motor functioning, attention, processing speed, executive functioning, social cognition and receptive/expressive language. Multi-informant ratings indicated anxiety. Reading, writing, and mathematics fell several years below grade- level in the context of low average intellectual ability (WAIS-IV: GAI = 88). Conclusions Many deficits in this neuropsychological profile are typically subsumed by the cerebellum or its associated networks, and overlap with CCAS. The findings of this case study warrant consideration by clinicians of functional impairment related to cerebellar cysts and expansion of our knowledge-base of cerebellar function.

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 A-053 Importance of Neuropsychological Assessment in a Patient with DiGeorge Syndrome

2020 ◽  
Vol 35 (6) ◽  
pp. 843-843
Author(s):  
Lord A ◽  
Biedzycki J ◽  
Sarlo G
Keyword(s):  
Verbal Memory ◽  
Emotional Regulation ◽  
Visual Memory ◽  
Digeorge Syndrome ◽  
Heart Defects ◽  
Genetic Disorder ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Adult Intelligence Scale

Abstract Objective 22q11.2 Deletion Syndrome, (DiGeorge Syndrome), is a genetic disorder which commonly causes heart defects, a submucosal cleft palate, and other health conditions, in addition to developmental delays. Individuals with DiGeorge Syndrome are more likely to have Attention-Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD), with research also supporting a high risk for developing schizophrenia in adulthood. Method In this case study, a 22-year-old woman presented with DiGeorge Syndrome and trunkus arteriosus at the Department of Human Services (DHS) for employment services. Additionally, the patient’s parents reported concerns about behavioral outbursts and emotional regulation difficulties for the last three years. The patient completed a full neuropsychological, cognitive, and emotional assessment battery to help understand any neurocognitive and psychological limitations in obtaining and maintaining employment. Results On neurocognitive testing, she performed in the Severely Impaired range on measures of attention, processing speed, working memory, verbal memory, visual memory, visuospatial ability, motor functioning, and nonverbal problem solving. While performing in the Moderately Impaired range for tactile memory, verbal fluency, and cognitive flexibility. However, the patient exhibited a personal strength on the Verbal Comprehension Index of the Wechsler Adult Intelligence Scale—Fourth Edition (WAIS-IV). On emotional functioning testing, she did not display early signs of schizophrenia nor psychosis. However, the patient did express emotional and behavioral signs of ADHD and ASD. Conclusion This case study emphasizes the need for neuropsychological testing and ongoing psychological monitoring for individuals with DiGeorge Syndrome, as it relates to treatment recommendations and planning.

scholarly journals A-193 Comprehensive Neuropsychological Assessment of a Nine-year-old Child with a Rare Congenital Growth Hormone Deficiency: A Case Study of Cognitive Dysfunction Accompanying the IGF-1-R Mutation

2020 ◽  
Vol 35 (6) ◽  
pp. 988-988
Author(s):  
Tross B ◽  
Briggs K ◽  
Brown S ◽  
Lewandowski A ◽  
Lewandowski C
Keyword(s):  
Growth Hormone ◽  
Neuropsychological Assessment ◽  
Behavioral Problems ◽  
Human Growth ◽  
Hormone Deficiency ◽  
Fine Motor ◽  
Motor Deficits ◽  
Facial Morphology ◽  
Health Providers

Abstract Objective The insulin growth factor 1 receptor (IGF-1-R) gene plays a pivotal role in human growth and development (Kannian & Ryan, 2019). Heterozygous IGF-1-R mutations represent a rare subtype of congenital growth hormone deficiencies (Abuzzahab et al., 2003). The very few cases that have been reported implicate lower volume in brain structures that include the splenium, right global pallidus, hippocampus, and left thalamus (Webb et al., 2012). As a result, physical anomalies in children are expressed through short stature, microcephaly, and atypical facial morphology, as well as intellectual and academic deficits (Essakow et al., 2016; Webb et al., 2012). Given the limited case studies of this gene mutation, the neuropsychological implications are unclear (Yang et al., 2019). Method This case study is of a nine-year-old male child with mild physical anomalies, fine motor deficits, inattention, and cognitive delay, referred by pediatrics for differential diagnoses of impaired cognition vs. amotivation vs. emotional-behavioral problems. Impairment on an initial educational screening evaluation indicated the need for a more comprehensive and broad-based assessment which is presented here. Results Findings revealed cognitive impairment on measures of intellect, fine motor integration, complex and sustained attention and vigilance, executive functioning, memory, learning, language comprehension, phonological knowledge, encoding, decoding, reading comprehension, and arithmetic. Emotional testing was normal. Conclusion Neuropsychological assessment provided detailed information for pediatricians, parents, teachers, and allied health providers for treatment planning, and led to genetic testing that confirmed the diagnosis of the rare IGF-1-R mutation and furthered clinical understanding of this child’s social, academic, and neuropsychological needs.

scholarly journals AN AYURVEDIC MANAGEMENT OF SPINAL MUSCULAR ATROPHY (SMA) – A CASE STUDY

2021 ◽  
Vol 9 (11) ◽  
pp. 2897-2902
Author(s):  
Raheena B ◽  
Shaila Borannavar ◽  
Ananta S Desai
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neurons ◽  
Autosomal Recessive ◽  
Muscular Atrophy ◽  
Genetic Disorder ◽  
The Body ◽  
Erect Posture ◽  
Smn1 Gene ◽  
Autosomal Recessive Pattern

Spinal Muscular Atrophy (SMA) is the second leading genetic disorder inherited in the autosomal recessive pattern due to the absence of the SMN1 gene characterized by loss of motor neurons and progressive muscle wasting, often leading to dependent life and decreased life span. In Ayurveda, this condition can be considered as Kulaja Vyadhi wherein the patient’s Mamsa and Snayu is affected by Vata. This can be regarded as Mamsa-Snayugata Sarvanga Vata. It is said that Prakruta Vata dosha is the life, it is the strength, it is the sustainer of the body, it holds the body and life together. If it is Vikruta it produces Sankocha, Khanja, Kubjatva, Pangutva, Khalli and Soshana of Anga. So, in this disease aggravated Vata does the vitiation of Mamsa and Snayu thus leading to Soshana of both, resulting in Stambha, Nischalikarana of Avayava. A 21years female patient was admitted to our I.P.D with c/o of reduced strength in all four limbs leading to the inability to walk and to maintain erect posture during standing and sitting positions. Based on Ayurvedic principles the patient was initially subjected to Avaranahara Chikitsa followed by Brimhana line of management. Keywords: Mamsagata vata, Snayugata vata, Sarvanga vata, Spinal muscular atrophy (SMA)

scholarly journals A Case Study on Management of Rett Syndrome by Wholistic approach

2020 ◽  
Vol 11 (2) ◽  
pp. 351-357
Author(s):  
Renu Rathi ◽  
Bharat Rathi ◽  
Rakesh Khatana ◽  
Suraj Sankh
Keyword(s):  
Case Report ◽  
Rett Syndrome ◽  
Motor Development ◽  
Autism Spectrum ◽  
Severe Form ◽  
Fine Motor ◽  
Gross Motor ◽  
Gross Motor Development

Background: Rett syndrome-RS comes under Autism spectrum disorder-ASD which is a neurodevelopmental syndrome. It is diagnosed by the main differentiating features of lack of interpersonal and communication skills, poor eye contact, delayed speech with pervasive abnormal body movements. Aim and Objectives: This case report is aimed at dissemination of comprehensive role of Ayurveda in management of ASD, Rett syndrome. Material and Methods: RS is the severe form of ASD. This case study of 2.3 year’s girl presented with RS and global delay, being treated with wholistic approach. It comprises Ayurveda chikitsa and other therapies like Yoga, hydrotherapy, occupational, music, physiotherapy and many more. Observation and Result: Patient has shown promising results in all developmental milestones such as gross motor, fine motor and personal social in 6 months duration except language. Different varieties of massage therapy, diet and Basti, Nasya (Panchkarma) procedures, Omkar mantra chanting, passive Yogasana were done. Conclusion: In this case report, mainly Ayurveda interventions were implemented with wholistic approach as an adjuvant, received good result in gross motor development which is very difficult in RS, hence it is a unique case. It also opened the door of wholistic approach with the hope to deliver the good result in similar disorders.

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