The Dutch version of the Spinal Appearance Questionnaire for adolescents with idiopathic scoliosis:patient-based cross-cultural adaptation and measurement properties evaluation

Purpose: Adolescent idiopathic scoliosis (AIS) affects the appearance of spine and trunk. The Spinal Appearance Questionnaire (SAQ) assesses the perception of appearance in AIS patients. The aim of this study is to translate and culturally adapt the recommended short version of the SAQ into Dutch and to test its measurement properties. Methods: A Dutch SAQ (14-item; appearance and expectations domains) was developed following guidelines for translation and cross-cultural adaptation. The COSMIN Study Design checklist was used for measurement properties evaluation. In this multicenter study, the Dutch SAQ, SRS-22R and NPRS (back pain) were administered to 113 AIS patients (aged 15.4 years [SD 2.2], 21.2% male). Floor and ceiling effects were evaluated for content analysis. For reliability, internal consistency (Cronbach’s alpha) and test–retest reliability (ICC; n = 34) were evaluated. Predefined hypotheses of relationships with other questionnaires and between subgroups based on scoliosis severity (radiological and clinical) were tested for construct validity. Exploratory factor analysis (EFA) was performed to investigate the validity of the underlying structure of this 14-item questionnaire. Results: No floor and ceiling effects were found for domains and total scores. Cronbach’s alpha ranged from 0.84 to 0.89. ICCs varied from 0.76 to 0.77. For construct validity, 89% (8/9) of the predefined hypotheses were confirmed. Significant higher scores for the appearance domain were found for subgroups based on radiological (Cobb angle; &gt; 25.0°) and clinical outcomes. (Angle of Trunk Rotation; &gt; 9.0°). A two-factor structure was found (EV 5.13; 36.63% explained variance). Conclusion: The Dutch SAQ is an adequate, valid and reliable instrument to evaluate patients’ perception of appearance in AIS. Level of evidence: Level I—diagnostic studies.</p

Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6

Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.A238T:p.Arg80* RIPPLY2 mutation in the homozygous state, was associated with severe malformation of the posterior elements of the cervical vertebral column. In both cases neurological symptoms occurred early in life due to spinal cord compromise. These two cases, in keeping with previous reports, highlight the early and progressive natural history of cervical deformity in this rare skeletal dysplasia and the need for close neurological and radiological surveillance. Surgical decision-making needs to carefully balance the need for early intervention to protect spinal cord function on one hand, with the problem of bone malformation and skeletal immaturity on the other.</p

Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6

Biallelic pathogenic variants of the RIPPLY2 gene have been recognized to cause a subtype of autosomal recessive spondylocostal dysostosis (SCDO6), characterized by predominant cervical spine malformation with minor or absent involvement of the ribs. To date, RIPPLY2 associated SCDO6 has been described in ten patients in five studies with accompanying clinical symptoms varying from transient and recurrent torticollis to flaccid quadriplegia. Here, we describe two additional patients in one family in which the c.A238T:p.Arg80* RIPPLY2 mutation in the homozygous state, was associated with severe malformation of the posterior elements of the cervical vertebral column. In both cases neurological symptoms occurred early in life due to spinal cord compromise. These two cases, in keeping with previous reports, highlight the early and progressive natural history of cervical deformity in this rare skeletal dysplasia and the need for close neurological and radiological surveillance. Surgical decision-making needs to carefully balance the need for early intervention to protect spinal cord function on one hand, with the problem of bone malformation and skeletal immaturity on the other.</p

Bone Health in Adults With Prader-Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study

CONTEXT: Prader-Willi syndrome (PWS) is a rare complex genetic syndrome, characterized by delayed psychomotor development, hypotonia, and hyperphagia. Hormone deficiencies such as hypogonadism, hypothyroidism, and growth hormone deficiency are common. The combination of hypotonia, low physical activity, and hypogonadism might lead to a decrease in bone mass and increase in fracture risk. Moreover, one would expect an increased risk of scoliosis due to hypotonia and low physical activity. OBJECTIVE: To study the prevalence and risk factors for skeletal problems (reduced bone mineral density, fractures, and scoliosis) in adults with PWS. METHODS: We retrospectively collected patient characteristics, medical history, medication, biochemical measurements, dual-energy X-ray absorptiometry scans, and spinal X-rays and reviewed the current literature. RESULTS: We included 354 adults with PWS (median age 31 years; 43% males), of whom 51 (14%) had osteoporosis (T-score below -2.5) and 143 (54%) had osteopenia (T-score -1 to -2.5). The most prevalent modifiable risk factors for osteoporosis were hypogonadism, insufficient dairy intake, sedentary lifestyle, and corticosteroid use. Male sex was associated with osteoporosis (P = .005). Growth hormone treatment was not associated with osteoporosis. A history of vertebral fractures was present in 10 (3%) and nonvertebral fractures in 59 (17%). Scoliosis was present in 263 (80%), but no modifiable risk factors were identified. CONCLUSION: Besides scoliosis, osteoporosis is common in adults with PWS. Based on the literature and the risk factors for osteoporosis found in our cohort, we provide practical clinical recommendations to avoid skeletal complications in these vulnerable patients