Table 2. .
Key Clinical Features of PLS[Note]
| Patient |
|||||||||||
| Trait | 990 | 1579 | 1618 | 1913 | 2167 | 2306 | 2414 | 2211 | 2440 | 2543 | Non-GCRC Subjectsa |
| Sex | M | M | M | F | F | F | M | M | F | M | |
| Age | 9 y 10 mo | 4 y 2 mo | 14.5 y | 13 y | 3 y 3 mo | 2 y 9 mo | 9.5 y | 4 y 10 mo | 2 y 1mo | 8 y 1 mo | |
| Duplicationb | C | C | C | C | C | C | C | L | L | S | C |
| Obstetrical and birth history: | |||||||||||
| Birth weight low for gestational age | − | + | − | − | + | + | + | + | − | − | 5/11 |
| Failure to progress and/or cesarean section | + | + | − | − | + | − | + | − | + | − | 2/8 |
| Medical and developmental history: | |||||||||||
| Poor feeding as infantc | + | + | + | + | + | + | + | + | + | + | 8/9 |
| Gastroesophageal refluxc | + | − | + | + | + | − | + | + | + | + | 3/5 |
| Failure to thrive in infancy or early childhoodc | − | + | + | + | + | + | − | + | + | + | 5/8 |
| Gastrostomy tube | − | + | + | + | − | − | − | + | + | − | 1/8 |
| Hypotonia as infantc | + | + | + | + | + | + | + | + | + | + | 9/11 |
| Developmental delayc | + | + | + | + | + | + | + | + | + | + | 14/14 |
| Epilepsy | − | − | − | − | − | − | − | − | − | − | 1/10 |
| Subjective sleep disturbance | − | − | − | − | − | − | − | + | − | − | 4/6 |
| Short stature | − | − | − | +d | − | − | − | − | − | − | 4/11 |
| Neuropsychiatric evaluation: | |||||||||||
| Cognitive impairmentc | + | + | + | + | + | + | + | + | + | + | 14/14 |
| Low adaptive functionc | + | + | + | + | + | + | + | + | + | + | 5/5 |
| Autistic featuresc | + | − | + | + | + | + | + | + | + | + | 1/2 |
| Speech and language evaluation: | |||||||||||
| Language impairmentc | + | + | + | + | + | + | + | + | + | + | 9/10 |
| Articulation difficultiesc | + | + | + | + | + | + | + | + | + | + | 8/9 |
| Oral-pharyngeal dysphasiac,e | + | + | + | + | + | − | + | + | + | 1/1 | |
| Central and/or obstructive sleep apneac | + | + | + | + | + | + | − | + | + | ||
| EEG abnormalityc | + | + | + | + | + | + | + | + | − | 3/5 | |
| Epileptiform abnormalities on EEG | + | − | + | + | − | − | + | + | − | 0/3 | |
| Hypermetropia seen on ophthalmic examinationc | + | + | + | + | + | − | + | + | + | − | 1/5 |
| Hearing impairment | −f | − | − | −f | − | − | − | − | − | − | 1/6 |
| CNS abnormality by MRI | − | +g,h | +g,i | +g,h | +g,j | +g,j | − | +g,i | +g,k | − | 0/4 |
| Cardiovascular abnormality | − | − | + | + | + | + | + | − | −l | 1/2 | |
| Structural renal anomaly | − | − | − | − | − | − | − | + | − | − | 1/3 |
| Scoliosis >10 degrees | − | − | − | − | − | − | + | − | + | + | 1/3 |
| Low total cholesterol and low LDL | − | + | − | + | + | − | − | − | − | − | |
Note.— Plus sign (+) = feature present; minus sign (−) = feature not present.
a
Data for non-GCRC subjects is given as number with trait/number tested. Male:female ratio is 6:9. Age range is 17 mo to 24 years.
b
Duplication size: C = common; L = large; S = small.
c
Feature observed in 70%–100% of subjects with the common duplication evaluated at GCRC.
d
Not growth-hormone deficient.
e
Swallow-function study with a speech pathologist present.
f
Mild sensitivity loss at 4,000 Hz.
g
Magnetic resonance imaging (MRI) not performed at GCRC.
h
Microcephaly.
i
Mild attenuation of corpus callosum.
j
Mild delay in myelination.
k
Possible Rathke’s cleft remnant and prominence of left semicircular canal and vestibule.
l
Borderline prolonged QT interval.