Certaines complications peuvent être réversibles avec un traitement approprié.
RéversibilitéTraitement approprié
#3
Comment les complications affectent-elles la qualité de vie ?
Les complications peuvent gravement affecter la qualité de vie et nécessiter un soutien.
Qualité de vieSoutien médical
#4
Y a-t-il des risques de maladies associées ?
Oui, des maladies métaboliques ou neurologiques peuvent être associées à cette déficience.
Maladies associéesDéficience enzymatique
#5
Comment prévenir les complications ?
Un suivi médical régulier et un traitement précoce peuvent aider à prévenir les complications.
Prévention des complicationsSuivi médical
Facteurs de risque
5
#1
Quels sont les facteurs de risque pour cette déficience ?
Les antécédents familiaux et certaines mutations génétiques augmentent le risque.
Antécédents familiauxMutations génétiques
#2
L'environnement joue-t-il un rôle ?
Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme.
Facteurs environnementauxExpression génétique
#3
Les maladies métaboliques augmentent-elles le risque ?
Oui, certaines maladies métaboliques peuvent prédisposer à des déficiences enzymatiques.
Maladies métaboliquesDéficiences enzymatiques
#4
Y a-t-il des groupes à risque particulier ?
Les personnes avec des antécédents familiaux de troubles lipidiques sont à risque.
Groupes à risqueTroubles lipidiques
#5
Comment le mode de vie influence-t-il le risque ?
Un mode de vie malsain peut exacerber les symptômes et augmenter le risque de complications.
Mode de vieRisque de complications
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"position": 12,
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"text": "Une alimentation équilibrée riche en acides gras essentiels peut être bénéfique."
}
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{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
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"acceptedAnswer": {
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"text": "Oui, les tests génétiques peuvent identifier les porteurs et aider à la planification familiale."
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},
{
"@type": "Question",
"name": "Des programmes de sensibilisation existent-ils ?",
"position": 14,
"acceptedAnswer": {
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"text": "Des programmes éducatifs peuvent sensibiliser aux troubles métaboliques héréditaires."
}
},
{
"@type": "Question",
"name": "Comment le suivi médical contribue-t-il à la prévention ?",
"position": 15,
"acceptedAnswer": {
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}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette déficience ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut inclure des suppléments lipidiques et une thérapie diététique."
}
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{
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"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
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}
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{
"@type": "Question",
"name": "Des médicaments spécifiques existent-ils ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de médicaments spécifiques approuvés pour cette condition."
}
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{
"@type": "Question",
"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une nutrition adéquate peut aider à gérer les symptômes et améliorer la santé globale."
}
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{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux en cours ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des études cliniques explorent de nouvelles approches thérapeutiques."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications neurologiques et métaboliques peuvent se développer si non traitées."
}
},
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"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être réversibles avec un traitement approprié."
}
},
{
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"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
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"text": "Les complications peuvent gravement affecter la qualité de vie et nécessiter un soutien."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de maladies associées ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des maladies métaboliques ou neurologiques peuvent être associées à cette déficience."
}
},
{
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"name": "Comment prévenir les complications ?",
"position": 25,
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"@type": "Answer",
"text": "Un suivi médical régulier et un traitement précoce peuvent aider à prévenir les complications."
}
},
{
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"name": "Quels sont les facteurs de risque pour cette déficience ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques augmentent le risque."
}
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{
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"name": "L'environnement joue-t-il un rôle ?",
"position": 27,
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"@type": "Question",
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"position": 28,
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}
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{
"@type": "Question",
"name": "Y a-t-il des groupes à risque particulier ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les personnes avec des antécédents familiaux de troubles lipidiques sont à risque."
}
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{
"@type": "Question",
"name": "Comment le mode de vie influence-t-il le risque ?",
"position": 30,
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"@type": "Answer",
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}
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}
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India. jesuaraj@hotmail.com.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
d Laboratory of Molecular Biochemistry and Cell Biology, Department of Biochemistry, Rajendra Memorial Research Institute of Medical Sciences, Agamkuan, Patna 800007, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
d Laboratory of Molecular Biochemistry and Cell Biology, Department of Biochemistry, Rajendra Memorial Research Institute of Medical Sciences, Agamkuan, Patna 800007, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Medicine, Division of Infectious Diseases, San Francisco Veteran Affairs Medical Center, and the Department of Medicine, University of California, San Francisco, California, USA. Electronic address: paul.sullam@ucsf.edu.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Biotechnology, College of Science and Humanities, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
Department of Chemistry, Interdisciplinary Institute of Indian System of Medicine, SRM Institute of Science and Technology, 603 203, Kattankulathur, Chennai, Tamil Nadu, India.
Publications dans "CDPdiacylglycerol-serine O-phosphatidyltransferase" :
In the Diagnostic and Statistical Manual and Mental Disorders, Fifth Edition (DSM-5), autism spectrum disorder (ASD) and social (pragmatic) communication disorder (SCD) were described as a new categor...
Participants were 127 ASD patients, 52 SCD patients, and 49 NT individuals. Receiver operating characteristic (ROC) analyses were used to examine AQ-J total score cutoff values to distinguish between ...
In the ROC analysis for the ASD and NT groups, the area under the curve (AUC) was 0.96, and the optimum cutoff value was 23 points (sensitivity 92.9%, specificity 85.7%). The AUC for the SCD and NT gr...
Our findings suggest the usefulness of the AQ-J in screening for ASD and SCD....
A number of children experience difficulties with social communication and this has long-term deleterious effects on their mental health, social development and education. The E-PLAYS-2 study will tes...
The aim of the E-PLAYS-2 trial is to establish the effectiveness and cost-effectiveness of care as usual plus the E-PLAYS programme, delivered in primary schools, compared to care as usual. Cluster-ra...
The aim of this study is to undertake a final, definitive test of the effectiveness of E-PLAYS when delivered by teaching assistants within schools. The use of technology in game form is a novel appro...
ISRCTN 17561417, registration date 19th December 2022....
v1.1 19th June 2023....
Currently, there are no existing measures to screen for or diagnose Social (Pragmatic) Communication Disorder (SPCD). We conducted an exploratory factor analysis (EFA) of the Social Communication Diso...
The aim of this study was to evaluate the Children's Communication Checklist-2 (CCC-2) for measuring social-pragmatic communication deficits and to ascertain their prevalence and functional impact in ...
We used parent and teacher responses to the CCC-2 to approximate inclusion (poor social-pragmatic skills) and exclusion (poor structural language skills or autistic symptomatology) criteria for social...
Regardless of the diagnostic algorithm used, the resulting prevalence rates for social-pragmatic deficits indicated that very few children had isolated social-communication difficulties (0-1.3%). Howe...
A considerable proportion of children in the early years of primary school has social-pragmatic deficits that interfere with behaviour and scholastic activity; however, these rarely occur in isolation...
Diagnostic confusion commonly arises when assessing for social communicative dysfunction. Clinicians are tasked to differentiate ASD, social pragmatic disorder and developmental language disorders, wh...
The purpose of this study was to explore the communication and social interaction experiences of adolescents with congenital motor speech disorders due to cerebral palsy or Down syndrome, with the aim...
Five male youths (ages 14-18 years) with congenital motor speech disorders and one of their parents participated in face-to-face, semistructured interviews designed to understand communication and soc...
Participants described the youths' day-to-day communication experiences, including facilitators and barriers to successful social interactions. Thematic analysis revealed three main themes: (a) strong...
Participants reported that the impact of congenital motor speech disorders on social interactions and experiences became more apparent in adolescence than in earlier childhood. Addressing communicatio...
Social Communication Disorder (SCD), introduced in the DSM-5, is distinguished from Autism Spectrum Disorder (ASD) by the absence of restricted and repetitive behaviors or interests (RRBIs)....
To compare the adaptive, sensory, communication, and cognitive profiles of children with ASD and SCD....
The assessments of nine children with SCD and ten with ASD were compared with either Fisher's Exact Test or the Mann-Whitney Test. Assessments included the Vineland Adaptive Behavior Scales, the Autis...
The total ADOS score and the second subtotal "Restricted and Repetitive Behaviors" were significantly higher (...
While ASD and SCD share similarities in communication and pragmatic difficulties, some distinctions have been identified, e.g. in executive functioning and the impact on socialization, which may be li...
There are no assessment and screening tools for Autism Spectrum Disorders (ASD) validated for the Portuguese population. The Social Communication Questionnaire (SCQ) is an useful screening tool of ASD...
Neuroimaging studies of individuals with autism spectrum disorders (ASDs) consistently find an aberrant pattern of reduced laterality in brain networks that support functions related to social communi...
Autism spectrum disorder is characterized by social communication difficulties and social skills abilities that are significantly differ from neurotypical populations as well as restricted and repetit...