Validity of the Diagnostic Interview CRIDI -Autism Spectrum Disorders as a Gold Standard for the Assessment of Autism in Latinos and Mexicans

Albores-Gallo, Lilia; Lopez, Jose Juan Escoto; Suárez, Gema Torres; Ruiz, Belen Carmona; Bravo, Marco Antonio Solis; Guillen, Liliana Guadalupe Tapia; Rizo, Tania Vargas; Hern, Emmanuel Sarmiento; ez,; Villareal-Valdes, Gabriela; Fern,; Mir, Abbas; Morales, Karla Castro; Leon, Isis Suarez Ponce de; Magana, Eunice Borrayo; Alej,; Hern, ra; Duarte, ez; Nava, America Catalan; Monteverde, Ricardo Escudero; Hern, Aymara Gatica; Flores-Rodriguez, Yassel; Luna, Enrique Navarro; Dozal, Jorge Chavez; Ibarra, Marianela Moreno de; Estevez, Romina Aguerre; Alonzo, Javier Alonzo; Hern, Sofia Arce; Gonzalez, Willian; Granados, Julian Moreno; Guerra, Lexma; Amado, Leidy Valencia; Peretto, Maria Constanza; Salazar, Johanna Suarez

doi:10.4172/neuropsychiatry.1000550

Cited by 4 publications

(9 citation statements)

References 40 publications

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“…The first Chinese E200K patient who was reported in 2010 also had sleeping disturbance as the initial symptom 10 . The positive rates of CSF 14-3-3, PSWC in EEG and special abnormalities in MRI of those E200K gCJD cases are similar as those of Chinese sCJD 8 . Therefore, without PRNP sequencing, it is almost impossible to distinguish E200K gCJD and sCJD clinically.…”

Section: Discussionsupporting

confidence: 56%

“…Therefore, without PRNP sequencing, it is almost impossible to distinguish E200K gCJD and sCJD clinically. The median survival time of E200K gCJD cases is longer than that of 257 Chinese sCJD patients (4.5 moths) 8 . However, similar as the data of sCJD, the exact clinical duration each case varies largely, while no special associations of the survival time with gender, onset age and other clinical features are addressed.…”

Section: Discussionmentioning

confidence: 80%

“…The onset and clinical characteristics of Chinese E200K gCJD are more like as sCJD, although the onset age of E200K gCJD is younger than that of sCJD 8,17 . CYP4X1 SNP rs9793471 has an influence on age at onset of disease in patients with E200K genetic and sporadic CJD 18 .…”

Section: Discussionmentioning

confidence: 95%

“…Additionally, all 30 Chinese E200K gCJD patients are M129M and E219E homozygous, which reflects a typical profile of PRNP genotype of Northeastern Asian. Actually, all Chinese patients with various genetic prion diseases are M129M so far, whose rate is obviously higher than that of normal Chinese population (about 93%) and sCJD patients (98.5%) 8 .…”

Section: Discussionmentioning

confidence: 97%

“…From our surveillance data of human prion diseases since 2006, about 150 cases of genetic prion diseases have been identified, which contain 15 different subtypes of PRNP mutations, which accounts about 10% of all referring human prion diseases 7 . E200K gCJD is the third most commonly observed genetic prion disease in China after D178N FFI and T188K gCJD 7,8,11 . E200K mutation is the largest cluster of gCJD existing in the North African Jewish community of Libyan and Tunisian ancestry 12 .…”

Section: Discussionmentioning

confidence: 99%

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The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients

Gao

Shi

Xiao

et al. 2019

Sci Rep

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Genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutation is one of the common subtypes of human genetic prion diseases worldwide. In this study, we systematically analyzed 30 Chinese E200K gCJD cases for their epidemiological, clinical, laboratory and genetic features. The patients came from 12 different provinces, majority in northern part of China. The onset age varied from 42 to 71 year-old (y), with the median of was 57 y. The CYP4X1 gene rs9793471 SNP was tested. Only one patient’s rs9793471 genotype was GA and the others’ were AA. The gender ratio (M: F) was 1:1.73 (11:19). The foremost symptoms and clinical progression of Chinese E200K gCJD patients were quite similar as sporadic CJD cases. Only a few cases (4/30) recalled clearly disease related family history. 74.1% (20/27), 86.7% (26/30) and 50.0% (13/26) of the cases were CSF 14-3-3 positive, sCJD associated abnormalities on MRI and special PSWC on EEG, respectively. The median clinical duration was 9 months (varying from 2 to 26 months). All 30 Chinese E200K gCJD patients were M129M and E219E homozygous. 21 members from 3 families conducted PRNP sequencing and 16 asymptomatic carriers of E200K mutation with M129M and E219E homozygous were identified. This is the largest study on E200K gCJD patients in China, which would benefit to the knowledge of E200K gCJD.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 80%

Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients

Gao

Shi

Xiao

et al. 2019

Sci Rep

View full text Add to dashboard Cite

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Hispano‐American Brain Bank on Neurodevelopmental Disorders: An initiative to promote brain banking, research, education, and outreach in the field of neurodevelopmental disorders

et al. 2021

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Neurodevelopmental disorders (NDDs) are conditions that present with brain dysfunction due to alterations in the processes of brain development. They present with neuropsychiatric, cognitive, and motor symptoms. Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are two of the most common NDDs. Human brain tissue is a scarce resource that is obtained from postmortem donations. In the case of NDDs, specifically autism, the reduced donation rate of brains prevents researchers to investigate its pathology and fine anatomy. The Hispano-American Brain Bank of Neurodevelopmental Disorders (Banco Hispanoamericano de CErebros de trastornos del NEurodesarrollo) or CENE is a large-scale brain bank for neurodevelopmental disorders in Hispano-America and the US. CENE's objectives are to collect and distribute brains of patients with NDDS, with a focus on ASD and FXS, to perform research, promote education of future scientists, and enhance public awareness about the importance of human tissue availability for scientific research on brain function and disease. CENE has thus far established a bilingual system of nodes and teams in several American countries including California-

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Pediatric and psychiatric models of autism care in Mexico: Differences in diagnostic tools and prescribed interventions

Zavaleta-Ramírez

Rosetti

Albores-Gallo

et al. 2023

Clin Child Psychol Psychiatry

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Low- and middle-income countries face heterogeneity in the way clinicians’ approach Autism Spectrum Disorder (ASD) diagnosis and treatment. The current study analyzes the diagnostic tools, laboratory tests, pharmacological and psychosocial interventions received by patients during the steps to diagnosis and treatment of two specialized care centers. Researchers interviewed families with a child with ASD receiving services at either a child psychiatric or a pediatric hospital. Of the total sample, 47% reported clinicians not using a diagnostic tool, 20% reported not receiving any psychosocial intervention, and 88% reported receiving a pharmacological prescription. Patients at the pediatric hospital were more likely to receive interventions with some components of Applied Behavioral Analysis, Early Start Denver Model, Treatment and Education of Autistic and Related Communication Handicapped Children, and Sensory integration therapy; while patients at the psychiatric hospital were more likely to undergo learning, daily living skills, and socialization therapies. Patients at the psychiatric hospital received significantly more requests to obtain auditory and vision tests whilst genetic testing and imaging were more common in the pediatric hospital. The range and variability in terms of diagnostic tools, laboratory tests, and treatment options observed for both sites reflect a lack of consensus. Recommendations to improve ASD diagnostic and treatment in Mexico are given.

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Validity of the Diagnostic Interview CRIDI -Autism Spectrum Disorders as a Gold Standard for the Assessment of Autism in Latinos and Mexicans

Cited by 4 publications

References 40 publications

The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients

The genetic Creutzfeldt-Jakob disease with E200K mutation: analysis of clinical, genetic and laboratory features of 30 Chinese patients

Hispano‐American Brain Bank on Neurodevelopmental Disorders: An initiative to promote brain banking, research, education, and outreach in the field of neurodevelopmental disorders

Pediatric and psychiatric models of autism care in Mexico: Differences in diagnostic tools and prescribed interventions

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