ORTHOPAEDIC PROBLEMS IN DOWN SYNDROME Miss Sally Tennant

ORTHOPAEDIC PROBLEMS IN DOWN SYNDROME Miss Sally Tennant Consultant Paediatric Orthopaedic Surgeon RNOH, Stanmore St Mary’s Hospital Paddington

ABNORMAL COLLAGEN Collagen Type 6 Almost all tissues Extracellular matrix Muscle hypotonia “Lax” Tissues

MUSCULO-SKELETAL PROBLEMS HIP KNEE FEET SPINE

HIP INSTABILITY Capsular insufficiency, ligamentous laxity & muscle hypotonia → Progressive instability → Subluxation/Dislocation → Fixed dislocation →Osteo-arthritis Incidence Institutionalised patients-4. 5% hip instability Bennet et al 1982 Hypermobile but stable hips < 2 years Then painless spontaneous dislocations Posterior-produced by flexion, adduction, internal rotation Recurrent Posterior dislocations → dysplasia of the acetabulum (abnormal shape)

NATURAL HISTORY/PROGNOSIS “Hip disease in adults with Down syndrome” Hresko et al 1993 65 adults-hip abnormalities in 28%, correlated with walking ability Instability Worsened with time Sometimes started after skeletal maturity

POTENTIAL SURGICAL MANAGEMENT Capsular plication Femoral osteotomy Pelvic osteotomy

SURGICAL MANAGEMENT Complications of surgery Recurrent subluxation/dislocation-up to 50% Infection- up to 20% 2011 -Journal of Paediatric Orthopaedics- Femoral varus derotation osteotomy for the treatment of habitual subluxation and dislocation of the pediatric hip in trisomy 21 (Toronto) 16 hips in 9 children over 10 year period-all but 2 stabilised with femoral osteotomy only 1 arthritis, none redislocated 2011 -Sankar et al, Instability of the hip in patients with Down Syndrome. Improved results with Complete Redirectional Acetabular osteotomy Better results with pelvic osteotomy-92% of 18 unstable hips stable after surgery compared with femoral osteotomy only

OTHER HIP PROBLEMS PERTHES SUFE AVASCULAR NECROSIS

SUFE (SLIPPED UPPER FEMORAL EPIPHYSIS)

SUFE Puberty Hormonal changes weaken growth plate Obesity Other hormone disorders eg hypothyroidism ↑incidence Down syndrome-probably due to ↑ incidence hypothyroidism

SUFE Pain-KNEE or HIP Limping Inability to walk Chronic, acute Urgent medical treatment needed Hip xray

↑ risk of Avascular Necrosis

OUTCOME 2004 -11 hips in 8 patients 6/8 had hypothyroidism All had ↑BMI (Body mass index) After pinning, 6 slips progressed, 2 had Avascular necrosis, 1 had infection Treatment difficult Screen for hypothyroidism 2004 -8 patients After pinning, 5 hips developed AVN High rate of complications

AVASCULAR NECROSIS (AVN)

PERTHES

TOTAL HIP REPLACEMENT Osteo-arthritis of hip in Down syndrome - 8 -28% Dislocation, dysplasia, Perthes, SUFE, Avascular necrosis Problems with THR: Distorted femoral necks Small femoral canals-small stems Capsular laxity (constrained cups) Compliance Acetabular deformity (dysplasia)Bone graft Comorbidities (Heart, cervical spine) Susceptibility to infection

TOTAL HIP REPLACEMENT IN DOWN SYNDROME

RESULTS 1987 Skoff and Keggi - 8 THRs in 5 patients Average 46 years, all had subluxation Excellent results -no evidence of infection, loosening, or dislocation at average follow up 4 years Total hip arthroplasty in patients with Down’s syndrome 1999 THR in 9 hips in 6 patients with severe arthritis Average follow up nearly 8 years (2 -14 years) All had pain relief and full hip function

RESULTS Total hip arthroplasty in patients with Down syndrome. 2010 9 hips in 7 patients Osteoarthritis secondary to Hip dysplasia in 6 patients, SUFE in 1 patient Average follow up 9. 9± 6. 4 years (range, 2 -22. 5 years). Average patient age at THR was 34. 8± 7. 5 years Harris Hip Scores improved significantly at 4 -year follow-up. Harris Hip Scores remained unchanged at 8 -year follow-up. Two patients required revision THA for stem loosening at 6 and 16 years No dislocations or deep infections At last follow-up, all patients had a functional range of motion without evidence of discomfort related to their THR.

RESULTS Bone Joint J 2013; 95 -B, Supple A: 41– 5. Four studies –total 42 hips- clinical outcomes of THR in patients with Down’s syndrome. All patients successfully treated with standard acetabular and femoral components. Extra acetabular screws often used to enhance component stability Constrained liners used to treat intra-operative instability in 8 hips. Survival rates 81% - 100% at a mean follow-up of 105 months (6 to 292) are encouraging. Overall, while THR in patients with Down’s syndrome does present some unique challenges, the overall clinical results are good, providing these patients with reliable pain relief and good function.

SPINE

SCOLIOSIS

FEET CLUB FOOT METATARSUS PRIMUS VARUS FLAT FOOT

CLUBFOOT

INCIDENCE OF CLUBFOOT IN DOWN SYNDROME Shipp and Benacerraf Retrospective review of Antenatal Ultrasound reports over 18 years 34 of 68 fetuses had karyotyping-4 were abnormal (47, XXY, 47, XXX, trisomy 21, trisomy 18)-5. 9% Karyotyping indicated when an isolated clubfoot abnormality is identified.

PONSETI TECHNIQUE

BOOTS AND BAR

FLAT FEET

BUNIONS

MANAGEMENT Surgery-painful deformity Osteotomies Correction of flat foot and heel valgus MTP joint fusion

KNEES-PATELLO-FEMORAL DISLOCATIONS Contributing factors Capsular laxity Muscle hypotonia Genu valgum

MANAGEMENT Indications for surgery ? Functional impairment ? To prevent Osteo-arthritis 1986 “Instability of the Patellofemoral joint in Down syndrome” Dugdale et al 361 people Dislocatable or dislocated in 8% of institutionalised and 4% of non-institutionalised In only 3/47 knees did it stop walking 8 knees in 5 patients-surgery-50% satisfactory 1988 “Treatment of patellofemoral instability in Down Syndrome” Mendez et al 26 dislocated or dislocatable patellae in 16 patients Degree of PF instability not related to walking ability or to form of treatment Surgery → good walking ability in 86% of knees (67% with non op treatment and less likely to help poor ambulators) but did not effectively correct deformities which resulted in arthritis.

REALIGNEMENT SURGERY

RESULTS OF SURGERY “The Four-in-one procedure for habitual dislocation of the patella in children” 2007 6 knees in 5 patients-2/6 Down syndrome Mean age at surgery 6 years (4. 9 -6. 9) Mean Follow up 54 months No recurrence-Children satisfied “Surgical treatment of patellar dislocation in children with Down syndrome: a 3 -11 year follow up study” 2009 10 knees in 6 children Roux-Goldthwait-Campbell procedure (proximal & distal realignment) Mean age at surgery 10 years (6 -13) Average Follow up 8 years No recurrence Improvement in function Slightly more successful in patients with more severe disability

RESULTS The results of the operative treatment of patellar instability in children with Down’s syndrome 2012 10 knees in 8 children Age range 6 -11 Quadricepsplasty & Galeazzi procedure Mean follow up 3 years No recurrence of dislocation SUMMARY All small series Never identical procedures Short Follow up

OTHER PROBLEMS Polyarticular arthropathy Decreased bone density