Gender
|
M
|
M
|
M
|
F
|
F
|
M
|
F
|
M
|
M
|
M
|
F
|
F
|
M
|
M
|
F
|
F
|
F
|
9 M, 8 F
|
Gestational age (wks)
|
36
|
39
|
40
|
Term
|
38
|
Term
|
33
|
40
|
39
|
Term
|
36.5
|
Term
|
40
|
41
|
40
|
36
|
36
| |
Birth weight (g)
|
2863
|
3400
|
3657
|
4000
|
3175
|
2948
|
1940
|
4111
|
4630
|
3230
|
3000
|
3728
|
2700
|
3090
|
2438
|
2551
|
2523
| |
Birth length (cm)
|
47
|
55
|
NK
|
53
|
NK
|
50
|
46
|
58
|
55
|
50
|
53
|
NK
|
48
|
51
|
48
|
NK
|
NK
| |
Postnatal growth
| | | | | | | | | |
Age at examination (y)
|
12
|
5
|
7
|
3
|
9
|
5
|
7
|
9
|
12
|
9
|
6
|
42
|
15
|
4
|
14
|
14
|
14
|
3–42
|
Height (cm, percentile)
|
131 (< 1)
|
110 (27)
|
108 (< 1)
|
103 (93)
|
NK
|
109 (50)
|
125 (45)
|
148 (95)
|
142 (17)
|
135 (56)
|
111 (4)
|
170 (85)
|
149 (< 1)
|
97 (4)
|
151 (25–50)
|
145 (< 1)
|
145 (< 1)
|
5/16 (31%) short
|
Weight (kg, percentile)
|
32.6 (11)
|
20 (53)
|
18.8 (5)
|
17.2 (88)
|
NK
|
17.3 (50)
|
35 (96)
|
36 (78)
|
29.5 (3)
|
29.5 (55)
|
18.2 (7)
|
69.4 (82)
|
48.1 (18)
|
15.4 (19)
|
55.1 (75)
|
59.1 (75)
|
40.5 (12)
| |
OFC (cm, percentile)
|
56 (95)
|
50.8 (36)
|
52.7 (70)
|
50 (75)
|
NK
|
NK
|
51.2 (40)
|
54 (82)
|
NK
|
53 (64)
|
50.5 (27)
|
57 (99)
|
54.5 (40)
|
46 (< 1)
|
52.7 (30)
|
57 (98)
|
57 (98)
|
3/14 (21%) macrocephaly; 1 (7%) microcephaly
|
Psychomotor development
|
Sat independently (mo)
|
12
|
5–6
|
9–10
|
6
|
12
|
9
|
8–11
|
6
|
8–9
|
6
|
Normal
|
8
|
NK
|
5
|
8
|
6
|
6
| |
Walked independently (mo)
|
24
|
16
|
14
|
15
|
16
|
14
|
18
|
14
|
14–15
|
12
|
24
|
20
|
14
|
13
|
14
|
19
|
19
| |
First words and current language ability
|
3 y; now non-verbal
|
No speech; vowel sounds and sounds of pleasure present
|
No speech; previously had 10 signs but regressed to 3–4, babbling present, apraxic
|
No speech; uses about 5 signs with word approximations
|
Non-verbal
|
36 mo; 2-word phrases at 3.5 y; primarily single words with some phrase speech, stereotyped speech and echolalia
|
14 mo; first phrases at 24 mo, verbally fluent, complex speech
|
15 mo; never developed 2-word phrases, eventually lost all words
|
Non-verbal
|
8 mo; 2-word phrases by 24 mo, now verbally fluent
|
4 y; had approximately 10 words; currently uses no words
|
15 mo; phrase speech at 3 y; was verbally fluent until 12–13 y but currently uses no words
|
10–15 words by 18 mo; understands roughly 40 signs; comprehension and expressive language is limited
|
10 mo; uses a few word approximations, some signs, apraxic
|
At 3 y had approximately 200 words but only used 50 routinely; can speak in 2–3 word sentences but mostly echolalia
|
19 mo; combined words at 3.5 y; currently speaks in full sentences but developed word finding difficulties
|
19 mo; combined words at 3.5 y; spoke in full sentences but regressed at 9 y to only say 2–3 words, regained some vocabulary but fluctuating language
|
Currently non-verbal 9/17 (53%), fluent speech 3/17 (18%)
|
Intellectual disability (IQ or DQ)
|
Profound ID (Mullen: DQ 6.7, NVDQ 10.3, VDQ 3.1)
|
Profound ID (Mullen: DQ 21.3, NVDQ 30.1, VDQ 12.5)
|
Profound ID (Mullen: DQ 14.7, NVDQ 18.8, VDQ 10.6)
|
Profound ID (Mullen: DQ 16.5, NVDQ 19.5, VDQ 13.4)
|
ID (no testing available)
|
Severe ID (Mullen: CSS < 49, DQ 30.4, NVDQ 35, VDQ 25.8)
|
Mild ID (DAS-II: GCA 50, Verbal 52, NV reasoning 74, spatial 32, special NV 49)
|
Profound ID (Mullen: DQ 11.5, NVDQ 14.5, VDQ 8.5)
|
Severe ID (no testing available)
|
Mild ID (Stanford Binet: FSIQ 56, NVIQ 60, VIQ 56)
|
Profound ID (Mullen: DQ 10.5, NVDQ 13.2, VDQ 7.9)
|
Profound ID (Mullen: DQ 0.63, NVDQ 0.97, VDQ 0.29)
|
Profound ID (Mullen: DQ 10.4, NVDQ 15.5, VDQ 5.2)
|
Severe ID (Mullen: CSS < 49, DQ 26.4, NVDQ 33, VDQ 19.8)
|
Mild ID (BDI at 4 y: adaptive SS 65, cognitive 65, communication 65, fine motor 72, gross motor 69, social 65)
|
Mild ID (no testing available)
|
Mild ID (no testing available)
|
17/17 (100%)
|
Feeding difficulties
|
+ (chewing problems)
|
−
|
+ (regurgitation, oral motor dysfunction, difficulty consuming solid foods, PEG tube)
|
+ (oral motor dysfunction since birth, dysphagia, drooling, overeating, chewing problems)
|
+ (failure to thrive, g-tube)
|
−
|
− (drooling)
|
+ (dysphagia, drooling, may induce vomiting when over-eats)
|
+ (difficulty chewing, dysphagia)
|
+ (history of oral motor dysfunction, drooling)
|
+ (history of dysphagia)
|
+ (drooling, dysphagia)
|
+ (difficulty latching, currently gagging and choking behaviors, dysphagia, drooling)
|
+ (oral motor dysfunction)
|
−
|
+ (difficulty latching)
|
+ (difficulty latching)
|
13/17 (76%)
|
Hypotonia
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
−
|
+
|
+
|
16/17 (94%)
|
Gait abnormalities
|
+ (apraxic, hypotonic, toe-walking)
|
+ (toe-walking, unsteady, needs assistance)
|
+
|
+
|
+ (slow pace)
|
+ (toe walking)
|
+ (mildly hypotonic)
|
+
|
+
|
+
|
+ (apraxia)
|
+ (slow, hesitant and apraxic; previously reported as wide-based gait)
|
+ (mild but went through 6-month period in early childhood when he was unable to ambulate due to muscle weakness)
|
+
|
−
|
−
|
−
|
14/17 (82%)
|
Behavioral abnormalities
|
ASD
|
+
|
+
|
−
|
+
|
+
|
+
|
−
|
+
|
+
|
−
|
+
|
NK
|
+
|
+
|
+
|
−
|
−
|
11/16 (69%)
|
Hyperactivity
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
−
|
+
|
+
|
+
|
−
|
−
|
−
|
+
|
−
|
−
|
11/17 (65%)
|
Aggression
|
−
|
−
|
+
|
−
|
−
|
−
|
+
|
−
|
−
|
+
|
+
|
+
|
+
|
−
|
−
|
+
|
+
|
8/17 (47%)
|
Self-injury
|
−
|
−
|
+
|
−
|
−
|
−
|
−
|
+
|
−
|
−
|
−
|
+
|
−
|
−
|
−
|
NK
|
NK
|
3/15 (20%)
|
Sleep disturbance
|
−
|
+
|
+
|
+
|
+
|
−
|
−
|
−
|
+
|
−
|
+
|
+
|
+
|
+
|
+
|
−
|
−
|
10/17 (59%)
|
Pica
|
+
|
+
|
+
|
+
|
+
|
+
|
−
|
+
|
+
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
8/17 (47%)
|
Repetitive behaviors (type)
|
+ (stereotypic motor movements in upper and lower extremities, forced exhalations)
|
+ (spinning, hand-flapping, teeth grinding)
|
+ (repetitive motor mannerisms, stereotypic vocalizations)
|
+ (bouncing, tapping, upper extremity motor stereotypies)
|
+ (chewing, teeth grinding, breath holding)
|
+ (chewing, teeth grinding, hand flapping, stereotypic vocalizations)
|
+ (self-stimulation, insistence on routines)
|
+ (hand-flapping, chewing)
|
+ (hand-flapping)
|
+ (restricted interests, perseveration)
|
+ (teeth grinding, repeatedly taps objects, walks in circles)
|
+ (pacing, upper extremity motor stereotypies)
|
+ (hand flapping, chewing, stereotypic vocalizations, teeth grinding)
|
+ (chewing, hand flapping, repetitive jumping, stereotypic vocalizations)
|
+ (finger and toe tapping)
|
−
|
+ (chewing, tapping teeth with finger)
|
16/17 (94%)
|
Psychosis
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
+ (12–13 y)
|
−
|
−
|
−
|
−
|
−
|
1/17 (6%)
|
Regression (age and details)
|
+ (5 y; some language loss)
|
−
|
+ (6 y; motor regression and lost some sign language, at one point stopped walking for 6 weeks, slowly regained ambulatory skills; at 5 y, some language loss)
|
+ (15 mo; stopped babbling, loses motor skills when sick)
|
−
|
−
|
−
|
+ (3.5 y; language and motor skills, stopped walking, socially withdrawn and less responsive)
|
+ (3–4 y; loss of fine motor skills)
|
−
|
+ (4.5 y; loss of language and motor skills, lost ability to ambulate and eye contact, lethargic, developed unusual motor stereotypies, regression coincided with diagnosis of parasitic infection)
|
+ (12–13 y; intermittent periods of behavioral, motor, and language regressions sometimes preceded by viral infection, included psychiatric symptoms. Currently non-verbal and unable to walk unsupported)
|
+ (2 y; lost all words, 7 y; regression in handwriting [can no longer hold a pen], motor regression began roughly around when seizures started)
|
+ (12–18 mo; loss of babbling, loss of few words, eye contact, and gesturing to request)
|
−
|
+ (13 y; “manic-like” behavior)
|
+ (9–10 y; “manic-like” behavior)
|
11/17 (65%)
|
Neurological findings
|
Brain MRI (age)
|
Diffuse ventricular enlargement, colpocephaly, communicating hydrocephalus, thinning of parieto-occipital white matter and corpus callosum (8 y)
|
No MRI
|
Leukodystrophy (5 y)
|
Grossly normal but scattered areas of subtle FLAIR hyperintensity (2 y)
|
NK
|
Grossly normal but hyper-intensity in the left inferior parietal subcortical white matter possibly related to gliosis (4 y)
|
Normal (5 y)
|
Normal (3 y)
|
Normal (5, 9, and 11 y)
|
Normal (7 y)
|
Normal (4.5 y)
|
Normal (14 and 18 y)
|
Venous angioma (6 y); normal (16 y)
|
Normal (3 y)
|
Bilateral T2 hyper-intensities of posterior centrum semiovale (12 y)
|
Mild cerebellar tonsillar ectopia (14 y)
|
Normal (14 y)
|
Abnormal in 5/15 (33%)
|
Seizures (age of onset, type)
|
−
|
−
|
+ (5 y, Landau-Kleffner variant; 6 y epileptic encephalopathy)
|
−
|
−
|
−
|
−
|
−
|
− (10 y, suspected complex partial seizures)
|
−
|
−
|
−
|
+ (3 y febrile; 6 y focal; 15 y began 1–10 absence or partial seizures daily)
|
+ (4 y, generalized myoclonic seizures)
|
−
|
+ (14 y, atypical absence)
|
+ (7 y, atypical absence and tonic)
|
5/17 (29%)
|
Abnormal EEG
|
−
|
−
|
+ (localized sleep potentiated epileptiform discharges mainly in the midline and central regions during slow wave sleep)
|
+ (increased theta wave activity; bilateral K-complexes, and spindles and vertex waves during sleep. Left frontal spike and wave activity)
|
+ (spikes)
|
+ (spike and wave activity in frontotemporal lobes; no seizures)
|
−
|
−
|
+ (right frontal lobe spikes, slowing)
|
−
|
+ (left frontal spikes/polyspikes, intermittent polymorphic slowing [L>R] in the temporal region, and background slowing during sleep)
|
−
|
+ (high-voltage spike and sharp activity in frontal regions)
|
+ (occasional generalized polyspikes or polyspike-wave with shifting hemispheric predominance during sleep)
|
−
|
+ (no occipital dominant rhythm)
|
−
|
9/17 (53%)
|
Gastrointestinal problems
|
Gastroesophageal reflux
|
−
|
+
|
+
|
−
|
−
|
−
|
−
|
+
|
+
|
−
|
−
|
+
|
−
|
−
|
−
|
−
|
−
|
5/17 (29%)
|
Constipation
|
+
|
−
|
+
|
+
|
+
|
+
|
−
|
−
|
+
|
−
|
−
|
+
|
+
|
−
|
+
|
−
|
−
|
9/17 (53%)
|
Diarrhea
|
−
|
−
|
+
|
−
|
+
|
−
|
−
|
+
|
−
|
−
|
+
|
−
|
+
|
−
|
−
|
−
|
−
|
5/17 (29%)
|
Additional features
|
Increased pain tolerance
|
+
|
+
|
+
|
+
|
+
|
−
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
+
|
16/17 (94%)
|
Decreased perspiration/heat intolerance
|
−
|
−
|
+
|
NK
|
−
|
NK
|
−
|
NK
|
+
|
−
|
−
|
NK
|
−
|
NK
|
−
|
−
|
−
|
2/12 (17%)
|
Recurrent infections
|
−
|
+ (otitis, MT)
|
+ (otitis)
|
−
|
−
|
+ (otitis, upper respiratory tract)
|
−
|
+ (otitis, MT)
|
−
|
+ (otitis, tonsillitis)
|
+ (otitis, MT; yeast)
|
+ (otitis, bronchitis)
|
+ (otitis, sinusitis)
|
+ (otitis, MT)
|
−
|
−
|
−
|
9/17 (53%)
|
Visual problems
|
−
|
+ (strabismus, corrective surgery)
|
+ (mild hyperopic astigmatism)
|
−
|
−
|
+ (strabismus)
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
+ (myopia)
|
+ (myopia)
|
5/17 (29%)
|
Congenital heart defect
|
−
|
−
|
−
|
−
|
−
|
−
|
+ (coronary artery fistula)
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
−
|
1/17 (6%)
|
Renal abnormalities
|
−
|
−c
|
−
|
−
|
−
|
−
|
−c
|
−
|
−
|
−
|
−
|
−
|
−c
|
−c
|
−c
|
−c
|
−
|
0/17
|
Allergies
|
+ (penicillin)
|
+ (food, seasonal)
|
−
|
−
|
+ (food)
|
+ (penicillin, seasonal)
|
+ (seasonal)
|
+ (food)
|
+ (seasonal)
|
+ (penicillin)
|
+ (seasonal)
|
+ (food, dust, pets)
|
+ (food)
|
+ (food)
|
−
|
−
|
−
|
12/17 (71%)
|
Asthma
|
−
|
−
|
−
|
−
|
−
|
+
|
+ (allergy induced)
|
−
|
−
|
−
|
−
|
−
|
−
|
+
|
−
|
−
|
−
|
3/17 (18%)
|
Eczema
|
−
|
+
|
−
|
−
|
−
|
−
|
−
|
+
|
+
|
+
|
−
|
−
|
+
|
+
|
−
|
−
|
−
|
6/17 (35%)
|
Other
| | | | | | |
Birth by in vitro fertilization
| |
Sleep apnea
| | |
Sleep apnea, atrial fibrillation, intermittent hypoglycemia
| | |
Left preauricular skin tag, scoliosis
|
Episode of idiopathic intracranial hypertension at 12 y
| | |