Autism, types, and treatment. A case study on autism

Autism is a neurodevelopmental disability that affects how people communicate, learn, interact with others, and behave.

1. SOUSAN
A274153121006
HG&MM
AUTISM

2. AlsoknownasAutismSpectrumDisorder
(ASD)
Combinationofgeneticandenvironmental
factors
INTRODUCTION

3. Mental health issues
Delay in development
Medical issues
SYMPTOMS

4. Examination of medical history
Family assessment
Clinical genetic testing
Chromosomal array analysis
Molecular DNA testing
DIAGNOSIS

5. Syndromic
Non-Syndromic
TYPES OF AUTISM

6. Heterogeneous
Inherited
De-novo variations
Genetic modifiers
GENETIC FACTORS

7. Fragile x chromosomes -X chromosome (Xq27.3)
Men are more likely to develop fragile x chromosome
The loss function of the FMR1 gene, CGG triplet repeat in
5’UTR
Fragile X mental retardation 1 protein (FMR1P)
Genes associated with FXR
INVOLVEMENT OF GENES

8. STEM CELL THERAPY
Mesenchymal Stem Cells-boostthe immune
system&repairdamagedtissue
Use umbilical cord-derived MSC
Mechanism–Byreleasinggrowthfactors,
cytokines,&exosomes

9. ASD & SCT
In ASD, an imbalance between innate and adaptive
immunity
Pro-inflammatory state
SCT increases theproductionofanti-inflammatory cytokines
by –paracrine secretion, neuroprotective effects,
hypoimmunogenic and immunosuppressive properties
Improvementincognitiveabilities & behaviors

10. CASE STUDY –ANIMAL MODEL
ASD associated phenotypes
Rodent model –Brachyuran tan & Black inbred mouse strain (BTBR)
HumanMSCstransplantedintracerebroventricularly
Better social focus than non-transplanted BTBR mice
Enhancedhippocampalneurogenesis(increased Ki-67 & DCX markers)
Long-termeffect
Another, for decrease in anxiety, increase in phosphatase and tensinhomolog,
VEGF expression

11. Used in VPA –induced autism model–increased
neurogenesis
Improvement in cognitive and social behavior
Maternalimmuneactivationmodelofautism–
myeloidlineage
Posttransplantation Cellularchanges

12. CLINICAL TRIALS
TYPE OF TRIAL NUMBER AND TYPE OF CELLS
TRANSPLANTED/SOURCE
DURATION PRIMARY OUTCOMES
Autologous, open-label 8.19 ×10
7
mononuclear
cells/bone marrow
26 months Safety Improvements in
cognitive and social tasks
Improvement in hypoperfused
brain areas
Allogenic, nonrandomized,
open-label, single-center
Phase I/II trial, combined
transplantation
2 ×10
6
/kg mononuclear
cells/cord blood and 1 ×
10
6
/kg mesenchymal stem
cells/umbilical cord
24 weeks Safety Improvements in
stereotypic behaviorsand
lethargy/social withdrawal
Allogenic, open-label, single
center
30 ×10
6
/mL fetalstem
cells/fetus
12 months Safety Improvement in
cognitive ability, behaviors,
and sociabilityImprovements
in immune functions
Autologous, randomized,
blinded, placebo-controlled
Umbilical cord 24 weeks Safety No improvements in
symptoms
Autologous, Phase I, single-
center, open-label
Umbilical cord 12 months Safety Improvement in
socialization, communication,
and adaptive behavior

13. BENEFITS
Umbilical cord tissueusage
No invasive procedure
More viable source
Better performance
Can be administered multiple times
Safe

14. CONCLUSION
Release of growth factors
Regulateimmunesystem
Increase in blood supply(angiogenesis)
Replacing Non-functioning tissues
Improvements

15. THANK YOU
REFERENCES:
Stem Cell Therapies for Cerebral Palsy and Autism Spectrum Disorder—A
Systematic Review –PMC
Stem Cell Therapy | Autism Child Development Centre (ACDC) in Mumbai,
India
Can Genetics Find A ‘Cure’ For Autism? | IFLScience
Developing Gene-Based PersonalisedInterventions in Autism Spectrum
Disorders –PMC
https://www.frontiersin.org/articles/10.3389/fncel.2019.00385/full