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Updated: Aug 21, 2026
Testing Sensory and Multisensory Function in Children with Autism Spectrum Disorder
Published on: April 22, 2015
The yield of laboratory investigations in children with infantile autism
B Kosinovsky1, S Hermon, R Yoran-Hegesh
1Child Developmental Center, Tel Aviv Sourasky Medical Center, Petah-Tiqva, Israel.
Insights
Laboratory investigations for infantile autism are often unrevealing. Molecular diagnosis for Fragile-X syndrome was the only effective test, identifying it in 3% of infants, though these cases did not show autistic regression.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Genetics
Background:
- Infantile autism, a complex neurodevelopmental disorder, necessitates accurate diagnostic tools.
- Evaluating the utility of various laboratory investigations is crucial for timely diagnosis and management.
Purpose of the Study:
- To assess the diagnostic yield of laboratory investigations in identifying causes of infantile autism.
- To determine the effectiveness of electroencephalograms, neuroimaging, genetic studies, and metabolic workups.
Main Methods:
- Retrospective review of medical records from four child developmental centers and two pediatric psychiatric clinics.
- Analysis of investigative procedures including electroencephalogram, neuroimaging, Fragile-X genetic testing, and metabolic workup in 132 autistic infants.
Main Results:
- Fragile-X syndrome was identified in 2 out of 59 infants (3%) through molecular diagnosis; these infants were in the non-regressive group.
- Electroencephalograms (n=132), neuroimaging (n=70), and metabolic workups (n=53) yielded no significant diagnostic findings.
- Autistic regression occurred in 36% of infants (47/132) around 20 months of age.
Conclusions:
- Molecular diagnosis for Fragile-X syndrome is the only laboratory investigation that contributed to the diagnosis in this cohort.
- The study suggests a minimal etiological role for epilepsy, despite its frequent association with autism, as indicated by electroencephalogram findings.
Purpose:
To evaluate the yield of laboratory investigations in infantile autism.
Methods:
We retrieved and evaluated the results of investigative procedures recorded in the medical files of autistic infants in four child developmental centers and two pediatric psychiatric outpatient clinics.
Results:
One-hundred and thirty-two infants were included in the study of whom 47 (36%) underwent autistic regression at an average age of 20 months. The investigative procedures included electroencephalogram (n = 132), neuroimaging (n = 70), genetic studies to detect Fragile-X (n = 59) and a metabolic workup (n = 53). Except for the molecular diagnosis that revealed Fragile-X syndrome in two children (3%), all other tests were negative. The two infants with the Fragile-X syndrome belonged to the non-regressive group.
Conclusions:
The only investigative study that contributed to the diagnosis of autistic infants was the molecular diagnosis detecting Fragile-X. In spite of the high frequency of epilepsy and epileptiform abnormalities in the electroencephalograms of autistic children in general, the contribution of epilepsy, both clinical and subclinical, to the etiology of autism is apparently minimal.
