Clinical Synopsis - %209850 - AUTISM - OMIM
Display:  


INHERITANCE
- Isolated cases
- Multifactorial

NEUROLOGIC
Central Nervous System
- Mental retardation in 75%
- Seizures in 15-30%
- EEG abnormalities in 20-50%
Behavioral Psychiatric Manifestations
- Impaired social interactions
- Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
- Impaired ability to form peer relationships
- Impaired language development
- Lack of spontaneous play
- Restrictive behavior, interests, and activities
- Stereotyped, repetitive behavior
- Inflexible adherence to routines or rituals

LABORATORY ABNORMALITIES
- Increased serum serotonin in 25%

MISCELLANEOUS
- Onset by 3 years of age
- Male to female ratio 4:1
- Occurs in 2-5 per 10,000 individuals
- Genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496)
- Associated with tuberous sclerosis (191100)
- Associated with untreated phenylketonuria (261600)
- Associated with Fragile X syndrome (309550)


Contributors:
Joanna S. Amberger - updated : 1/19/2005
Cassandra L. Kniffin - revised : 5/19/2004
Creation Date:
John F. Jackson : 6/15/1995
Edit History:
ckniffin : 09/09/2008
ckniffin : 5/10/2007
joanna : 10/21/2005
joanna : 1/19/2005
ckniffin : 5/21/2004
ckniffin : 5/19/2004

% 209850

AUTISM


SNOMEDCT: 408857007, 43614003;   ICD10CM: F84.0;   ICD9CM: 299.0;   DO: 12849;  


INHERITANCE
- Isolated cases
- Multifactorial

NEUROLOGIC
Central Nervous System
- Mental retardation in 75%
- Seizures in 15-30%
- EEG abnormalities in 20-50%
Behavioral Psychiatric Manifestations
- Impaired social interactions
- Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures
- Impaired ability to form peer relationships
- Impaired language development
- Lack of spontaneous play
- Restrictive behavior, interests, and activities
- Stereotyped, repetitive behavior
- Inflexible adherence to routines or rituals

LABORATORY ABNORMALITIES
- Increased serum serotonin in 25%

MISCELLANEOUS
- Onset by 3 years of age
- Male to female ratio 4:1
- Occurs in 2-5 per 10,000 individuals
- Genetic heterogeneity (see, e.g., 609378, 608636, 608049, 300425, 300495, 300496)
- Associated with tuberous sclerosis (191100)
- Associated with untreated phenylketonuria (261600)
- Associated with Fragile X syndrome (309550)


Contributors:
Joanna S. Amberger - updated : 1/19/2005
Cassandra L. Kniffin - revised : 5/19/2004

Creation Date:
John F. Jackson : 6/15/1995

Edit History:
ckniffin : 09/09/2008
ckniffin : 5/10/2007
joanna : 10/21/2005
joanna : 1/19/2005
ckniffin : 5/21/2004
ckniffin : 5/19/2004



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: July 19, 2024
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