Checklist of Limprasert et al for Screening Thai Boys for the Fragile X Syndrome

 

Patient selection: Thai boy with developmental delay of unknown cause

 

Items for checklist:

(1) family history

(2) long and narrow face

(3) large and/or prominent ears

(4) attention deficit hyperactivity disorder (ADHD)

(5) autistic-like behavior

(6) testicular volume (macroorchidism)

 

Assessment	Points
absent	0
borderline	1
present	2

 

total score =

= (2 * (points for family history)) + (points for face) + (0.5 * (points for ears)) + (2 * (points for ADHD)) + (points for testicular volume)

 

Interpretation:

• minimum score: 0

• maximum score: 13

• A score <= 4 is considered negative for Fragile X syndrome.

• A boy with a score > 4 should undergo further evaluation for the Fragile X syndrome.

 

Performance:

• The authors found that 79% of boys could be excluded from further testing.