Reduction of Ritualistic Behavior in a Patient with Autism Spectrum Disordertreated with Antibiotics: A Case Report

2017 ◽  
Vol 01 (03) ◽  
pp. 148-153
Author(s):  
Kelly Barnhill ◽  
Dane Mosher ◽  
Joy Mong ◽  
Betty Tong ◽  
Rebeca Shearer ◽  
...  
Keyword(s):  
Case Report ◽  
Autism Spectrum ◽  
Ritualistic Behavior

Case report: a child with cystic fibrosis and phenylketonuria

2020 ◽  
Vol 1 (2) ◽  
pp. 38-44
Author(s):  
Irina V. Vakhlova ◽  
Anastasia D. Kazachina ◽  
Olga A. Beglyanina
Keyword(s):  
Cystic Fibrosis ◽  
Case Report ◽  
Clinical Practice ◽  
Neonatal Screening ◽  
Genetic Disorders ◽  
Epileptiform Activity ◽  
Autism Spectrum ◽  
Speech Development ◽  
Inherited Disorders ◽  
Congenital Diseases

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

Autism spectrum disorder in a patient with genetic mosaicism: case report

2017 ◽  
Vol Ano 7 ◽  
pp. 38-41
Author(s):  
Ana Sofia Pontes Trillo ◽  
Mariana Gianola Arruda ◽  
Camila Fernandes Bonifácio Jubara ◽  
Isabela Mosconi Caldas ◽  
Sonia Maria Motta Palma
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Genetic Mosaicism

O presente relato descreve o caso de um paciente com transtorno do espectro autista (TEA) associado ao mosaicismo genético 46XY, uma condição rara e pouco relatada. Os autores descrevem a evolução do paciente e discutem a literatura sobre anomalias cromossônicas associadas ao TEA. Conclui-se enfatizando que a avaliação clínica de cada caso de TEA deveria contemplar sempre aspectos neurológicos, psiquiátricos e genéticos.

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.

Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome

2021 ◽  
Author(s):  
Cristina C. Silva ◽  
Sofia Morais ◽  
Graça Areias ◽  
Maria S. Meneses ◽  
Nuno G. G. F. Madeira ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Autism Spectrum ◽  
Clinical Syndrome ◽  
Spectrum Disorder

Case Report: Whole Exome Sequencing Unveils an Inherited Truncating Variant in CNTN6 (p.Ser189Ter) in a Mexican Child with Autism Spectrum Disorder

2019 ◽  
Vol 50 (6) ◽  
pp. 2247-2251 ◽  
Author(s):  
José E. García-Ortiz ◽  
Ana I. Zarazúa-Niño ◽  
Angélica A. Hernández-Orozco ◽  
Edwin A. Reyes-Oliva ◽  
Carlos E. Pérez-Ávila ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Whole Exome ◽  
Mexican Child

scholarly journals Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report

2019 ◽  
Author(s):  
Sandro Orru ◽  
Ioannis Papoulidis ◽  
Elisavet Siomou ◽  
Dimitrios Papadimitriou ◽  
Sotirios Sotiriou ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Case Report ◽  
Male Patient ◽  
Severe Depression ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Rickets treatment improves more than bone health in toddler with autism spectrum disorder: A brief report

2019 ◽  
Vol 7 ◽  
pp. 2050313X1987002 ◽  
Author(s):  
Leah D Stalnaker ◽  
Priya Prasher ◽  
Susan Flesher
Keyword(s):  
Autism Spectrum Disorder ◽  
Vitamin D ◽  
Case Report ◽  
Effective Treatment ◽  
Vitamin D Deficiency ◽  
Developmental Delay ◽  
Bone Health ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Spectrum Disorder

Children with autism spectrum disorder have been found to have lower levels of vitamin D than their peers. Our case report supports the hypothesis that vitamin D may be an effective treatment for developmental delay in autism. In addition, we review the literature surrounding vitamin D deficiency as a potential cause of autism spectrum disorder and the role that vitamin D may play in treatment.

Sign in / Sign up

Export Citation Format

Share Document