الفهرس 
AUTISM SPECTRUM DISORDERSOnly 14 pages are availabe for public view
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Abstract
Autism spectrum disorder (ASD) is a range of complex neurodevelopmental disabilities characterized by impaired social communication and/or interaction, associated with restricted and repetitious behaviour.
The DSM-5 redefined the autism spectrum disorders to encompass the previous diagnoses of autism, Asperger syndrome, pervasive developmental disorder not otherwise specified (PDD-NOS), and childhood disintegrative disorder
Over time, vitamin B12 deficiency can cause blood cell changes, leading to anemia and the production of large red blood cells (macrocytes). It can also cause signs and symptoms of neuropathy, such as numbness and tingling in the hands and feet and/or, in advanced cases, mental or behavioral changes such as cognitive impairment, confusion, and irritability, and depression, speech delay.
An increased concentration of MMA is often detectable before blood cell changes and before full-blown symptoms are apparent, though some people may have some degree of neuropathy. The measurement of elevated amounts of MMA in the blood or urine serves as a sensitive and early indicator of vit B12 deficiency.
The serum level of MMA was assessed in order to have an accurate picture of vitamin B12 blood levels in autistic children. This helped in better interpretation of the relationship between vitamin B12 and autism even before the appearance of some symptoms.
Consequently, this study was conducted and aimed to measure the level of MMA (as an indicator of vit B12 level) in blood of autistic children, aiming to early detection of vit B12 deficiency and measurement of vitamin B12 in blood and its correlation with the level of MMA in blood of children with autism.
This case control study was conducted at Special Need Center of Faculty of Postgraduate Childhood Studies, Ain Shams University on children who visited the center from January 2023 till October 2023. A total of 60 children were enrolled in this study and divided into 2 groups matched in age and sex, group I (autistic group); included 30 children diagnosed as autistic and group II (control group); included 30 healthy children who served as controls. Childhood Autism Rating Scale (CARS) was applied. The CARS was performed to determine ASD severity in the patient through child observation and direct interviews with the family members.
To the best of our knowledge, there are no studies in literature assessing serum level of methylmalonic acid and most of studies that assessed serum vitamin B12.
This study revealed that:
There were no statistically significant differences between the studied groups as regards age, sex or weight and socioeconomic status.
As regard Childhood Autism Rating Scale, table (2) shows that 2 patients (6.7%) were severe, 28 patients (93.3%) mild to moderate according to CARS. Also, there was highly statistically significant difference between the 2 groups as regards MMA levels, which were higher among autistic group (2.58±1.06) ng/ml in comparison to control group (1.44±0.8) ng/ml.
On comparison of frequencies of clinical presentation among studied groups, there was significant difference between the 2 studied groups as regards memory troubles and hyperactivity frequencies which were higher among autistic patients in comparison to healthy controls. Also, table 6 shows that autistic patients with hyperactivity presentation had higher levels of MMA in comparison to autistic patients without hyperactivity presentation.
Finally, ROC analysis (Receiver operation Curve) was conducted to determine the optimal cutoff value to discriminate autistic patients from control group, analysis showed that MMA had highest sensitivity (88.46%) and specificity (70.37%) at cut-off point (2.04), with area under the curve (0.81), So MMA can be considered as a good marker in discriminating autistic patients from healthy controls.
In conclusion, serum level of MMA can be used for early detection of vitamin B12 deficiency in blood of children with autism.
MMA can be considered as a good marker in discriminating autistic patients from healthy controls.