Adolescent idiopathic scoliosis is known to aggregate within families; however, the pattern of inherited susceptibility is unclear. A genomic screen and statistical linkage analysis of a genetic isolate including individuals with idiopathic scoliosis is being performed to identify variants responsible for this disease.

Scoliosis does not demonstrate a characteristic pattern of classical genetic (inherited) disorders. The severity of the disease within families can change and sometimes generations are skipped. However, the role of hereditary or genetic factors in the development of this condition is widely accepted. Numerous investigators are currently attempting to locate these genes. Studies based on a wide variety of populations have suggested an autosomal dominant mode of inheritance or sex-linked inheritance pattern. Other authors state that the “genetics link” may be complex, with an interaction of several genes rather than just one.

To identify chromosomal loci encoding genes involved in susceptibility to idiopathic scoliosis and the trasmission way of scoliosis we are studing a genetic isolate. We have generated a 10,600 individual pedigree of the village of Campora, in the Cilento area, starting from the beginning of the 17th century connecting all the 1200 living inhabitants. The actual population of Campora derives from a few founders; therefore, the living inhabitants are all related to each other. The population will undergo clinical and radiographic evaluation for the presence and degree of scoliosis. A genomic screen and statistical linkage analysis of the families with individuals having idiopathic scoliosis will be performed. With this approach we can identify variants responsible for this complex disease and genetic links of scoliosis.

The D.D.H screening programme until the second half of ’80 was based on the clinical Ortolani-Barlow’s manoeuvre at newborn age and by xray examination of the pelvis at three – four month old to discover hip joint anomalies that could be address at a future dislocation. Never less the so-called Dislocation of the Hip was a quite common pathology around Europe. The close reduction of a dislocated hip has been the treatment of choice in order to attempt to reduce a dislocated hip without surgical operation. Close reduction was preferred to be obtained after a period of skin traction on bed, at which a special frame were added, to perform a progressive gentle reduction gaining, in an average of three weeks time, complete abduction before applying a spica cast. Two main methods were used: reduction with the hips extended, abducted and internal rotated according to Sommerville- Petit and reduction in over head position with the hips flexed, abducted and external rotated. These two systems were designed to decrease the Avascular Necrosis of the femoral head that often occurs if the reduction was obtained during a sudden manoeuvre under general anaesthesia.

Generally the correct position of the femoral head into the acetabular socket, at the moment to apply the plaster, was assessed by an arthrogram, to avoid the bad surprise of further dislocation due to false reduction after the traction period.

The child so treated had to be followed during her/his growth to assess the development of acetabular roof and the position of the femoral head linked at the antiversion of the femoral neck. Any hip joint, in which acetabular index do not improve during growth, needs acetabular and femoral osteotomies to overcome these anatomical defects as cause of a persisting genetic defect.

At the end of ’80, a deep change of the natural history of D.D.H. in Italy is related to the introduction of screening programme based on accurate clinical examination of the hip of the babies at the nursery, selection of babies with risk signs of D:D.H. such as clinical anomalies, instability of the hip at Ortolani-Barlow’s, familiarity for D.D.H. and breech delivery. The hips of those babies are immediately assessed by ultrasonographic examination according to Graf’s method. The general population, on the contrary, is examined by US between the second and the third months of age. The National Health Service encourages the US screening paying its cost. In this way the incidence of late-D.D.H. and late-dislocation is enormously decreased and the outcome of the pathology has been improved. The conservative treatment of the hip affected by different grade of anomalies early discovered trough US examination, in fact, are treated by simple harness in abduction for mild dyspalsia to plaster spica cast in human position if the hip is severely unstable and Ortolani positive. There are same rare cases of true Congenital Dislocation at birth that can not be conservatively reduced and it will be necessary to perform a open reduction generally when the ossified nucleus of femoral head appeares.

Our experience:

From 1975, when our Children Orthopaedic Department was created in the Medical School of “Federico II” University of Naples and the first authors become the Chief, we admitted 374 patients affected by dislocation of the hip (F=308 – M= 66 F:M= 5:1) with a mean age of 7 and half months (min.4 mths.– max 20 mths). All these patients were put in traction on the Morel’s bed in order to attempt a close reduction in extended, abducted and internal rotated position according to Sommerville- Petit method.

Average time of traction was 25 days (min. 7 max 38). 120 patients were undergone at an arthrographic examination in general anaesthesia. 46 patients did not achieve the reduction and were operated on.

A spica cast were applied for 60 days followed by an harness in abduction. Total amount of time of treatment was a mean of 7 months (min 110 days max. 12 months). Residual dysplasia was observed in 48 patients that needed a further surgical procedure.

The number of inpatient affected by D.D.H. were an average of 21 per year until 1990 to drop dramatically at 3 per year in the last decade. On the other hand the D.D.H. outpatient clinic increased. The selected babies examined were 6930 at an average age of 4 months old. All the babies were undergone to clinical and Us examination and classified according to Graf. Hip anomalies were seen in 630 babies. The treatment was related to clinical and Us observation. Simple abduction pillow or simple harness in abduction were used in hip clinically negative at Ortolani-Barlow’s manoeuvre and 2c or 2b type according to Graf.’s classification. Milgram harness or Coxaflex harness (Thamert –Burgwedel –Germany) or plaster spica cast in “human position” were applied in instable hip type D or worse and clinically positive at Ortolani-Barlow manoeuvre. 25 patients were hospitalised because affected by irreducible hip.

Conclusion:

The experience that we have done over decades in treatment of D.D.H. confirms the assumption of Treadwell and Bell (1981) that claimed that D.D.H. screening deeply changed the natural history of D.D.H. The problem was to find a good screening test helpful to diagnose as soon as possible a pathological hip.

Graf’s method, after a decade of scientific criticism, can be elected at a worth method to screen an infant hip. Screening program based on ultrasound and clinical examination decreases hospitalisation, cost and sequels of D.D.H. in term of surgical operation and degenerative arthritis of hip joint at least at a medium follow up. The hip that need to be hospitalised are the true congenital dislocated hip for which early diagnosis probably should not effect their clinical history.

A danger is hidden in US screening. Ultrasonography has to be performed by a skill examiner and it has to be implemented by careful clinical examination with anamnestic recording of the data in order to obtain the best result of the D.D.H. screening program.