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AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing, we compared the rate of likely causative genetic variants from whole‐exome sequencing in individuals with and without environmental risk factors. METHOD Patients were part of a convenience and physician‐referred cohort recruited from a single medical center, and research whole‐exome sequencing was completed. Participants were evaluated for the following risk factors: extreme preterm birth, brain bleed or stroke, birth asphyxia, brain malformations, and intrauterine infection. RESULTS A total of 151 unrelated individuals with CP (81 females, 70 males; mean age 25y 7mo [SD 17y 5mo], range 3wks–72y) participated. Causative genetic variants were identified in 14 participants (9.3%). There was no significant difference in diagnostic rate between individuals with risk factors (10 out of 123; 8.1%) and those without (4 out of 28; 14.3%) (Fisher's exact p=0.3). INTERPRETATION While the rate of genetic diagnoses among individuals without risk factors was higher than those with risk factors, the difference was not statistically significant at this sample size. The identification of genetic diagnoses in over 8% of cases with risk factors suggests that these might confer susceptibility to environmental factors, and that further research should include individuals with risk factors. What this paper addsThere is no significant difference in diagnostic rate between individuals with and without risk factors.Genetic variants may confer susceptibility to environmental risk factors.Six causative variants were identified in genes not previously associated with cerebral palsy.Global developmental delay/intellectual disability is positively associated with a genetic etiology.Extreme preterm birth, stroke/brain hemorrhage, and older age are negatively associated with a genetic etiology. What this paper adds: There is no significant difference in diagnostic rate between individuals with and without risk factors.Genetic variants may confer susceptibility to environmental risk factors.Six causative variants were identified in genes not previously associated with cerebral palsy.Global developmental delay/intellectual disability is positively associated with a genetic etiology.Extreme preterm birth, stroke/brain hemorrhage, and older age are negatively associated with a genetic etiology. This original article is commented by MacLennan on page 1369 of this issue. [ABSTRACT FROM AUTHOR]

Aim: To describe the prevalence of symptomatic cervical spinal stenosis (CSS) in spastic cerebral palsy (CP) and associated characteristics.Method: This cross-sectional study of adults (>18y) with CP (2006-2016) at a single institution compared the patient characteristics (demographics, comorbidities, surgical history, medications, Gross Motor Function Classification System [GMFCS] level, and CP type) of patients with and without CSS.Results: Of 424 patients (mean age 33y 4mo, SD 13y 6mo, range 18-78y; 225 females, 199 males), 32 patients (7.5%) had symptomatic CSS. GMFCS levels in the study cohort were distributed as follows: level I, 25%; level II, 25%; level III, 22%; level IV, 19%; level V, 9%. Twenty-five out of 32 (78.1%) patients had spastic CP, two (6.3%) had dystonic CP, and one (3.1%) had mixed characteristics. Individuals with CSS were older (mean age 54y 6mo, SD 10y 5mo vs mean age 31y 7mo, SD 12y 1mo, p<0.05) and had a higher body mass index (26.1, SD 4.8 vs 23.4, SD 6.2, p<0.05) than those without CSS. Presentations included upper-extremity symptoms (73%), ambulation decline (70%), neck pain (53%), and incontinence (30%). Common stenosis levels were C5-C6 (59%), C4-C5 (56%), and C6-C7 (53%).Interpretation: Symptomatic CSS was identified in 7.5% of this adult cohort during the 2006 to 2016 period. Diagnosis in CP is difficult due to impaired communication and pre-existing gait abnormalities and spasticity. Given the high prevalence of symptomatic CSS in adults, we propose developing screening guidelines. Physicians must maintain a high level of suspicion for CSS if patients present with changes in gait or spasticity. [ABSTRACT FROM AUTHOR]