Short stature skeletal dysplasia (SD) patients have orthopedic and neurologic complications causing significant pain and physical disability. We conducted a large cross-sectional online survey in 361 people with short stature SD (>10 years) to describe pain prevalence, characteristics, and the relationship between pain and function. Chronic pain prevalence per Brief Pain Inventory (BPI) was 70.3%. Women reported more pain than men (73% vs 63% p = 0.04). Pain Severity Score (average of current, worst, least and average pain) averaged 3.3 ± 2, while the Pain Interference Score (with daily activities) averaged 3.4 ± 2.7 on a 10-point scale. Per Bleck scale, 20.5% had little or no functional capacity. Increasing age and decreased ambulation independently predicted chronic pain. Chronic pain is prevalent in short stature SD patients and associated with poor physical function. Further study is required to clarify the temporal relationship among pain, function and treatments.

A hearing screening program was performed to determine the prevalence of hearing loss and abnormal tympanometry in individuals with short-stature skeletal dysplasias attending a national meeting. Behavioral audiometry, otoacoustic emission testing, and tympanometry were used to assess hearing. Failed hearing screen was defined as hearing ≥ 35 dB at one or more frequencies or by "fail" on otoacoustic emissions. One hundred ten of 112 subjects completed the screening. 58 (51.8%) were children. Seventy-three (65.2%) had achondroplasia, 34 (30.4%) had one of 11 other diagnoses, and 5(4.4%) were undiagnosed. 25.8% of children failed hearing screening in one or both ears, while 46.3% of adults failed in one or both ears. 55.1% of adults and 25.0% of children with achondroplasia failed screening. Abnormal hearing was also found in the some patients with spondyloepiphyseal dysplasia congenital (SEDC; 75%), diastrophic dysplasia (66%), and Morquio (66%). Hearing was normal in those with hypochondroplasia, pseudoachondroplasia, and microcephalic osteodysplastic primordial dwarfism. Tympanometry was abnormal in at least one ear in 53.3% of children and 38.5% of adults. Abnormal tympanometry in the absence of functioning tympanostomy tubes was associated with 9.5 greater odds of hearing loss in children and 2.8 greater odds of hearing loss in the total cohort. Only 3 (2.7%) respondents reported the use of hearing aids. Hearing loss and middle ear disease are common in both children and adults with skeletal dysplasia. Adults were more likely to fail hearing screening than children. Abnormal tympanometry is associated with hearing loss. Hearing screening with appropriate intervention is recommended for these patients.

No abstract

Costello syndrome is a rare condition due to heterozygous germline mutations in the proto-oncogene HRAS. It affects multiple organ systems and includes severe failure-to-thrive, short stature, and macrocephaly. The goal of this study was to develop Costello syndrome-specific growth curves. We collected height, weight, and head circumference (OFC) measurements from 94 individuals (45 males and 49 females). Their HRAS mutation spectrum reflects previously published cohorts, with p.G12S in 77.7%. Participants received medical care, therefore our data does not reflect natural history per se, but rather growth with nutritional support. Due to limited cohort size, we analyzed data from males and females together. Weight-for-age data included 417 separate measurements from 80 individuals age 0-36 months, and 585 measurements from 82 individuals for age 0-10 years. Height-for-age data were derived from 391 measurements from 77 individuals age 0-36 months, and 591 measurements from 90 individuals age 0-10 years. Measurements obtained after growth hormone exposure in 15 individuals were excluded in this analysis. The OFC curve was derived from 221 measurements from 55 individuals age 0-36 months. Centiles (5th, 50th, and 95th) were estimated across the age continuum for each growth parameter, and compared to gender-specific curves for average stature individuals. The resulting curves demonstrate very slow weight gain in the first 2 years. Short stature is seen in many, but after age 4 years the 95th centile for height falls within the low normal range for average stature children. Head circumference curves largely overlap those for average stature, reflecting relative macrocephaly.

Hearing loss and middle-ear disease are both highly prevalent in children with skeletal dysplasias. Abnormal tympanometry is highly associated with the presence of hearing loss, as expected in children with eustachian tube dysfunction. Hearing screening with medical intervention is recommended for these children.