AUTISM SPECTRUM DISORDERS (ASD) [DD]

Question 1

What is  AUTISM SPECTRUM DISORDERS (ASD) [DD]?

Accepted Answer

Autism spectrum disorder is a complex neurodevelopmental and genetically and clinically heterogeneous disorder

Possible imbalance between excitatory and inhibitory amino acid metabolism in ASD children [Liu A et al. 2019]

Genetic disorders and autism [Cohen D et al. 2005, Artigas-Pallares J et al. 2005]:
- 10p terminal deletion
- 15q11-q13 duplication
- 22q13 deletion
- 45X/46XY mosaicism
- Adenylosuccinate lyase deficiency
- Angelman syndrome
- Apert syndrome
- CHARGE syndrome
- Cohen syndrome
- Cowden syndrome
- De Lange syndrome
- Deletion of chromosome 2q
- Down syndrome
- Duchennes disease
- Fragile X syndrome
- Goldenhar syndrome
- HEADD syndrome
- Hypomelanosis of Ito
- Joubert syndrome
- Lujan-Fryns syndrome
- MECP2 related disorders
- Moebius syndrome
- Mutations in the ARX gene
- Myhre syndrome
- Myotonic dystrophy
- Neurofibromatosis type 1
- Noonan syndrome
- Phenylketonuria
- Prader-Willi syndrome
- Rett syndrome
- San Filippo syndrome
- Smith-Lemli-Opitz syndrome
- Smith-Magenis syndrome
- Sotos syndrome
- Steinert disease
- Timothy syndrome
- Tuberous sclerosis
- Velo-cardio-facial syndrome
- Williams syndrome
- XYY syndrome
- ...
association between childhood epilepsy and autism

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Autismus-Spektrum-Störungen

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN ---

Question 4

Which enzymes are involved?

Accepted Answer

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Disease	AUTISM SPECTRUM DISORDERS (ASD) [DD]
OMIM	--- OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	--- Detail information to gene locus by the National Center for Biotechnology Information NCBI: MAJOR HISTOCOMPATIBILITY COMPLEX
ICD	F84.-
Summary	Autism spectrum disorder is a complex neurodevelopmental and genetically and clinically heterogeneous disorder Possible imbalance between excitatory and inhibitory amino acid metabolism in ASD children [Liu A et al. 2019] Genetic disorders and autism [Cohen D et al. 2005, Artigas-Pallares J et al. 2005]: - 10p terminal deletion - 15q11-q13 duplication - 22q13 deletion - 45X/46XY mosaicism - Adenylosuccinate lyase deficiency - Angelman syndrome - Apert syndrome - CHARGE syndrome - Cohen syndrome - Cowden syndrome - De Lange syndrome - Deletion of chromosome 2q - Down syndrome - Duchennes disease - Fragile X syndrome - Goldenhar syndrome - HEADD syndrome - Hypomelanosis of Ito - Joubert syndrome - Lujan-Fryns syndrome - MECP2 related disorders - Moebius syndrome - Mutations in the ARX gene - Myhre syndrome - Myotonic dystrophy - Neurofibromatosis type 1 - Noonan syndrome - Phenylketonuria - Prader-Willi syndrome - Rett syndrome - San Filippo syndrome - Smith-Lemli-Opitz syndrome - Smith-Magenis syndrome - Sotos syndrome - Steinert disease - Timothy syndrome - Tuberous sclerosis - Velo-cardio-facial syndrome - Williams syndrome - XYY syndrome - ... association between childhood epilepsy and autism
Laboratory findings
Symptoms	anorexia behavior, anxiety behavior, autism or autistic-like depression immunodeficiency joint hypermobilty, dislocations, laxity onset, adolescent onset, adulthood onset, childhood onset, infancy