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Table 1 Demographics and clinical features of the ASD/SPAD children

From: Immunological characterization and transcription profiling of peripheral blood (PB) monocytes in children with autism spectrum disorders (ASD) and specific polysaccharide antibody deficiency (SPAD): case study

Case

Age1 (yr)

Race

Sex

Immuno-deficiency Diagnosis

Autism Diagnosis

Infection

Other co-morbidities and medications3

#14

13

W

M

SPAD5

Regressive autism

CRS, ROM

Chronic enterocolitis, asthma

fluoxetine, montelukast,

#24

11

W

M

SPAD

Regressive autism

CRS, ROM

Seizure disorder7, Chronic enterocolitis

levetiracetam, montelukast, loratadine,

#34

8

W

M

SPAD

Regressive autism

CRS

Chronic enterocolitis, allergic rhiniconjunctivitis

fluoxetine, montelukast, cetirizine, mometasone nasal inhaler

#44

9

W

M

SPAD

PDD-NOS (regressive)

ROM

Seizure disorder

valproic acid, L-carnitine, CQ10

#52,4

14

W

F

SPAD

Regressive autism

CRS, ROM,

Seizure disorder, Chronic enterocolitis, asthma

montelukast, desloratadine, minocycline (for acne), lorazepam

#6

16

W

M

SPAD

Regressive autism

CRS

Asthma, chronic enterocolitis

Steroid oral inhaler, nasal inhaler, guanfacine

#7

7

W

F

SPAD

PDD-NOS (regressive)

CRS, ROM

Seizure disorder

montelukast, nasal inhaler, levetiracetam, azithromycin (prophylaxis)

#8

6

mixed

M

SPAD6

Regressive autism

COM

guanfacine, risperidone, benzatropine

  1. 1 Ages at the time of SPAD diagnosis. It should be noted that Case #1 and Case #2 were followed up in the clinic for 2-3 yrs prior to SPAD diagnosis but their initial laboratory values were not consistent with SPAD diagnosis. Their clinical features progressed over 2-3 yrs to fulfill the diagnosis of SPAD.
  2. 2 This patient developed anti-phospholipid syndrome 5 yrs after being treated with IVIG.
  3. 3 Co-morbidities present at the time of presentation and medications at the time of sample obtainment.
  4. 4 Positive history of food protein induced enterocolitis syndrome (FPIES)
  5. 5 Abbreviations used: COM (chronic otitis media), CRS (chronic rhinosinusitis), PDD-NOS (pervasive developmental disorder, not otherwise specified), ROM (recurrent otitis media), SPAD (specific polysaccharide deficiency), and W (Caucasians)
  6. 6 This patient also revealed low IgG levels but did not fall into the diagnostic criteria for common variable immunodeficiency; immunoglobulin levels of 2 isotypes are lower than two standard deviations of mean values of age-appropriate controls.
  7. 7 In Case #2 and Case #7, a main trigger of seizure activities has been respiratory infection. In Case#7, onset of seizure clusters were almost always triggered by respiratory infection prior to IVIG treatment. After implementation of IVIG treatment, no clinical seizures have been observed in case #2. In case #7, seizure activity appears to be not associated with infection any more after starting IVIG treatment and prophylaxis doses of azithromycin (3 times per week).