BackgroundBetween 1959 and 1962, several children with multiple malformations were born after maternal intake of thalidomide during pregnancy, known as thalidomide embryopathy (TE).ObjectivesThe aim of this study was to evaluate the malformations, their long-term effect on the function of the extremities and the development of degenerative osteoarthritis (OA) in the lower extremities.MethodsAll living persons with TE in Sweden were invited to participate in the study. Thirty-one patients were examined clinically as a part of a multi-disciplinary follow-up programme. Evaluation of upper and lower limb function was performed by validated questionnaires [Disabilities of the Arm, Shoulder and Hand (DASH) and Rheumatoid and Arthritis Outcome Score (RAOS), respectively] and radiographic appearance of lower limbs by the use of spiral computed tomography.ResultsFive individuals had severe malformations of the lower limbs and proximal femoral focal deficiency (PFFD), with significantly reduced function as found on the RAOS values. Twenty-seven patients had two fully functional arms and hands, despite the fact that 8% of shoulders, 26% of elbows/forearms and 70% of hands were malformed. Loss of gripping function did not significantly affect the upper extremity function, as measured by the DASH score. Ten patients without major deformities had OA in the hips and 15 in the knees, mostly mild and with no effect on the RAOS value.ConclusionA wide variety of malformations in the upper and lower limbs was found in the study group. Degenerative changes were found in the hips and the knees but were mostly mild and without major clinical significance. Despite upper limb anomalies that affected the fine motor skills, upper extremity function was not significantly reduced for most individuals. Individuals with PFFD along with major deformities of upper limbs had a reduced function of upper as well as lower limbs.Electronic supplementary materialThe online version of this article (doi:10.1007/s11832-014-0609-9) contains supplementary material, which is available to authorized users.

ObjectivesThe aim of this study was to evaluate the effect of limb malformations on health-related quality of life (HRQL) and function of the extremities in middle-aged individuals with thalidomide embryopathy (TE). Between 1959 and 1962, approximately 150 children with multiple malformations were born in Sweden following the maternal intake of thalidomide during pregnancy, of whom 100 survived.MethodsThirty-one individuals with TE underwent evaluations of musculoskeletal manifestations by clinical examination. Validated questionnaires were used for the assessment of general HRQL [the 36-Item Short Form Health Survey (SF-36) and the EuroQ Five Dimensions health questionnaire (EQ-5D)]. The function of the upper and lower extremities was evaluated using specific questionnaires (Disabilities of the Arm, Shoulder and Hand scale and Rheumatoid and Arthritis Outcome Score, respectively). The lower limbs were evaluated by computed tomography. The median age of the study group was 46 years, and 42% were females. Twenty-five individuals had malformations of the hand, but 27 had a grip function. Five individuals had severe lower limb malformations. Individuals with at least one extremity with major malformation(s) that affected function (n = 15) were compared with those without (n = 16).ResultsThe physical HRQL for the entire study group [mean 40.6, 95% confidence interval (CI) 35.4–45.8], as evaluated by the Physical Composite Score (PCS) of the SF-36, was significantly lower than the national norm value (population-based norm) of 50.0, and the physical HRQL of the subgroup with major limb malformations (15/31) was even lower (mean 34.6, 95% CI 25.9–43.4). The mental aspects of HRQL, based on SF-36 and EQ-5D scores, were not affected in the entire study group or in the subgroups.ConclusionThe physical quality of life was significantly lower in individuals with TE compared with the general national population, while the mental aspects were not affected.Level of evidenceIV.

BackgroundThalidomide was used as a sedative drug for pregnant women in the 1950–60:s and resulted in children born with thalidomide embryopathy (TE), including upper limb malformations. These may alter the motion pattern of the cervical spine by the use of head/shoulder and mouth grip.AimsTo compare degenerative changes in the cervical spine in TE individuals with healthy controls (CTR).Methods and ProceduresTwenty-seven middle-aged TE individuals and 27 age- and gender-matched CTR were examined by cervical spine MRI. The presence of malformations, disc herniation(s), osteophytes, nerve and medullary compression and the degree of disc degeneration (DD) were evaluated.Outcomes and ResultsSignificantly higher degree of DD was seen in the TE group compared with the controls (p<0.001). Similar frequencies of disc herniation and disc space narrowing were observed in the two groups, but more foraminal narrowing was seen in the TE group (p = 0.002). DD was observed relatively frequently at all cervical levels in the TE group, however, mainly at the two lower levels in the CTR.Conclusions and ImplicationsMiddle-aged individuals with TE have a higher frequency of degenerative changes in the cervical spine than controls, possibly caused by an altered load on the cervical spine.

BackgroundThalidomide is known to have induced thalidomide embryopathy (TE) in more than 10,000 live-born children worldwide between 1957–1962.AimThe aim of this study was to investigate the need for orthopaedic surgery and limb orthosis in relation to function and physical independence in middle-aged individuals with TE.Methods13 women/18 men with a mean age of 45.8 (SD 1.1) years were included. Information about limb surgery, the use of orthotic devices, jobs, accommodation, disability adjustments and personal assistants was collected. Physical function was measured by a modified general function score. The time needed for activities of daily living (ADL) was collected. Individuals with proximal focal femoral deficiency, PFFD, and participants in need of home or work adaptations were compared with the rest of the group.Result31 surgical procedures had been performed in the extremities. Three individuals were in need of personal assistance and seven had disability-adjusted homes. 28 individuals were working and 24 reported participation in exercises. Those with PFFD had significantly lower function score and needed a significantly longer time for ADL in the morning (p = 0.001 and p = 0.032). The group in need of home or work adjustments had significantly lower function score and needed longer time for morning ADL (p = 0.012 and p = 0.009).DiscussionFew orthopaedic procedures had been performed. The TE individuals except the ones with PFFD and those in the need of disability adjustments, were mostly active workers, reported good physical function and participated in exercises, despite limb malformations.