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. Author manuscript; available in PMC: 2016 Nov 1.
Published in final edited form as: Pediatr Neurol. 2015 Aug 10;53(5):379–393. doi: 10.1016/j.pediatrneurol.2015.08.001

TABLE 3.

Developmental milestones and neurological signs of the G1D index patient

Age in months Clinical observations and examination
1–2 Smiles, raises head
2 Fails to follow completely with eyes
5 Both hand fisted, no purposeful hand movements
6 Rolls over, puts both hands together
8 Socially interactive; babbles; hands show increase in use though fisted, good palmar grasp; tone increased of the left ankle, otherwise normal
10 Maintains sitting position but tends to lose balance when reaches out with hands; crawls; mild hypertonia & hyperreflexia
11 Gets into sitting position
12 Pulls up to standing and cruises along furniture
14 No pincer grasp; arms and hands flexed; tightened heel cords
17 Easily distractible; DQ= 77
22 4-word vocabulary; drinks independently from a cup; starts using a spoon. Left hand preference; stands on toes; increased tone right arm
25 Walks independently
28 Starts identifying body parts; uses gestures and pointing to communicate; 10–20 poorly intelligible words; clumsy; wide based ataxic gait; spasticity with scissoring; extensor plantar response; DQ=73.6
31 Over 20 word vocabulary; decreased stumbling.
36 Rich single word vocabulary; 2-words utterances; difficulties with concepts of colors, sizes, spatial relationships and the negative; cannot identify animals; improved fine motor control; intermittent worsening ataxia with truncal titubation and intention tremor; drools; head banging behavior.
48 Puts words in brief phrases;
60 Short sentences, able to dress and use buttons and zippers; copies a circle; holds to the rail while climbing stairs; less ataxic but developed dystonic and athetoid movements; intermittent urinary retention. Head circumference continued to expand along the 50th percentile.
72 dysarthria
96 Difficulties grasping concepts at school; mild head tremor; able to run without difficulties; not able to hop on one foot; difficulties with fast repetitive movements; not able to tie shoelaces; still needs help wiping in the toilet.
Age in years Clinical observations and examination
12 Cooperative with mild reinforcement but is easily inattentive and distractible; speech with a slurred staccato quality but understandable; rapid alternating hand movements were slow with mild clumsiness when reaching for objects; able to hop on either foot clumsily. Deep tendon reflexes were slightly brisker in the right arm and left leg and plantar response was extensor on the left and equivocal of the right.
22 No significant change in observations or exam. Cooperative and distractible. Dysarthria, spasticity and ataxia.
25 No change in observations or exam