Impact of short stature on quality of life: A systematic literature review.

OBJECTIVE: We sought to obtain a better understanding of the burden of short stature using a systematic literature review. METHODS: Studies of the burden of short stature, of any cause in adults and children, were searched using Embase, MEDLINE and Cochrane databases in April 2020, capturing publications from 2008 onwards. Case series and populations with adult-onset growth hormone deficiency (GHD) were excluded. RESULTS: Of 1684 publications identified, 41 studies (33 in children, 8 in adults) were included. All studies assessed human burden. Most study populations in children included short stature due to GHD, idiopathic short stature (ISS) and short stature after being born small for gestational age (SGA). In these populations, four studies showed that quality of life (QoL) in children with short stature was significantly worse than in children with normal stature. A significant association between QoL and short stature was observed in children with chronic kidney disease (CKD) (3 studies), achondroplasia (1 study) and transfusion-dependent ß-thalassaemia (1 study), and in samples with mixed causes of short stature (3 studies). Three studies (one in GHD/ISS/SGA and two in CKD) found no significant association between short stature and QoL, and several studies did not report statistical significance. Approximately half of adult studies showed that QoL was reduced with short stature, and the other half showed no association. Two studies, one in adults with Prader-Willi syndrome and one in children with GHD, suggested a potential association between short stature and poorer cognitive outcomes. Three studies demonstrated an increased caregiver burden in parents of children with short stature. CONCLUSIONS: Evidence suggests that, compared with those with normal stature, children and adults with short stature of any cause may experience poorer QoL. Further research could extend our understanding of the human burden in this field.

Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia.

Individuals with achondroplasia have a high prevalence of obesity and increased risk of cardiovascular disease. Fat distribution, diet, and caloric intake are known risk factors, but the literature concerning diet and energy balance in achondroplasia is limited. The main aim of this study was to describe the anthropometrics, diet, and resting energy expenditure (REE) in a Norwegian adult achondroplasia population. Here, we present a descriptive cross-sectional study with the following variables: anthropometrics, the SmartDiet questionnaire, and dietary records. In addition, REE was measured and estimated using indirect calorimetry and prediction equations. A total of 33 adults with achondroplasia participated with a mean age of 40 years. Mean body mass index was 34.1 kg/m2 , and mean waist circumference was 94.1 cm for men and 82.2 cm for women. Their diets were classified as unhealthy (38%) or in need of improvement (62%). The mean REE values for the total group were 21 kcal/kg for the male (n = 15) and 20 kcal/kg for the female (n = 18). This study revealed a high frequency of central obesity and unhealthy dietary habits in Norwegian adults with achondroplasia. Mean energy intake was low and only 10% higher than the mean REE, and does not explain the high prevalence of abdominal obesity in our population.

Clavos endomedulares motorizados para alargamiento óseo en acondroplasia o hipocondroplasia / Motorized Intramedullary nails for bone lenghtening in achondroplasia or hypochondropasia

CONTEXTO CLÍNICO: La acondroplasia es la displasia ósea más común y la causa más frecuente de enanismo, com una incidencia de 1 en 20.000 nacidos vivos.1 Es una enfermedad congénita, ya sea por uma mutación de novo en padres sanos (80%) o por herencia autosómica dominante (20%), donde se afecta el gen del receptor 3 del factor de crecimiento de fibroblastos (FGFR3, su sigla del inglés fibroblast growth factor receptor 3). Se caracteriza por rasgos craneofaciales distintivos (macrocefalia, protrusión frontal y retracción de la parte media de la cara), baja estatura desproporcionada con acortamiento rizomélico de los miembros, braquidactilia, cifoescoliosis y lordosis lumbar acentuada. El acortamiento rizomélico se produce por una interrupción del cartílago de crecimiento proximal de los huesos largos, siendo más pronunciado en el fémur y el húmero. La estatura alcanza un promedio de 136 cm (rango 120 a 148 cm), existiendo uma desproporción del cuerpo dado que el tronco conserva su tamaño normal.2 La hipocondroplasia es una variedad menos grave, producida por mutaciones en otros sitios del gen FGFR3, y se diferencia de la acondroplasia por no presentar macrocefalia. TECNOLOGÍA: El clavo endomedular motorizado se coloca a través de un orificio en un extremo del hueso largo y luego se progresa hacia el otro extremo, se realiza una osteotomía mediante um segundo acceso y finalmente se fija el clavo con tornillos en sus extremos proximal y distal. Existen tres tipos de clavos endomedulares motorizados que difieren en el mecanismo por el cual se elongan el distractor cinético esquelético (ISKD®, su sigla del inglés Intramedullary Skeletal Kinetic Distractor, Orthofix) se elonga mecánicamente con movimientos rotatorios del miembro, el clavo Fitbone® (Wittenstein) lo hace electrónicamente por medio de eléctrodos externos y el clavo Precice® (Ellipse Thechnologies) con la aplicación de magnetos rotatórios externos. OBJETIVO: Evaluar la evidencia disponible acerca de la eficacia, seguridad y aspectos relacionados a las políticas de cobertura de los clavos endomedulares motorizados para el alargamiento óseo em acondroplasia e hipocondroplasia. MÉTODOS: Se realizó una búsqueda en las principales bases de datos bibliográficas (incluyendo Medline, Cochrane y CRD), en buscadores genéricos de Internet, agencias de evaluación de tecnologias sanitarias y financiadores de salud. RESULTADOS: Para el siguiente informe se incluyeron una RS, tres series de casos, tres GPC, una ETS y cinco políticas de cobertura. No hay evidencia que evalúe directamente el uso los clavos endomedulares motorizados em acondroplasia o hipocondroplasia. CONCLUSIONES: No hay evidencia que evalúe directamente el uso de los clavos endomedulares motorizados em acondroplasia o hipocondroplasia. Evidencia de muy baja calidad sobre el uso de los clavos endomedulares motorizados para el alargamiento óseo en otras patologías impiden estabelecer conclusiones acerca de su seguridad y eficacia. Las guías de práctica clínica consideran al alargamiento óseo en la acondroplasia um procedimiento riesgoso y de resultado incierto. Las políticas de cobertura relevadas no cubren el alargamiento óseo con clavos endomedulares motorizados al considerarlo un procedimiento cosmético para la baja estatura.

Growth disturbance after lengthening of the lower limb and quantitative assessment of physeal closure in skeletally immature patients with achondroplasia.

This study evaluated the effect of limb lengthening on longitudinal growth in patients with achondroplasia. Growth of the lower extremity was assessed retrospectively by serial radiographs in 35 skeletally immature patients with achondroplasia who underwent bilateral limb lengthening (Group 1), and in 12 skeletally immature patients with achondroplasia who did not (Group 2). In Group 1, 23 patients underwent only tibial lengthening (Group 1a) and 12 patients underwent tibial and femoral lengthening sequentially (Group 1b). The mean lengthening in the tibia was 9.2 cm (59.5%) in Group 1a, and 9.0 cm (58.2%) in the tibia and 10.2 cm (54.3%) in the femur in Group 1b. The mean follow-up was 9.3 years (8.6 to 10.3). The final mean total length of lower extremity in Group 1a was 526.6 mm (501.3 to 552.9) at the time of skeletal maturity and 610.1 mm (577.6 to 638.6) in Group 1b, compared with 457.0 mm (411.7 to 502.3) in Group 2. However, the mean actual length, representing the length solely grown from the physis without the length of distraction, showed that there was a significant disturbance of growth after limb lengthening. In Group 1a, a mean decrease of 22.4 mm (21.3 to 23.1) (4.9%) was observed in the actual limb length when compared with Group 2, and a greater mean decrease of 38.9 mm (37.2 to 40.8) (8.5%) was observed in Group 1b when compared with Group 2 at skeletal maturity. In Group 1, the mean actual limb length was 16.5 mm (15.8 to 17.2) (3.6%) shorter in Group 1b when compared with Group 1a at the time of skeletal maturity. Premature physeal closure was seen mostly in the proximal tibia and the distal femur with relative preservation of proximal femur and distal tibia. We suggest that significant disturbance of growth can occur after extensive limb lengthening in patients with achondroplasia, and therefore, this should be included in pre-operative counselling of these patients and their parents.

Lower-limb lengthening in short stature. An electrophysiological and clinical assessment of peripheral nerve function.

We assessed peripheral nerve function during and after lower-limb lengthening by callotasis in 14 patients with short stature, using motor conduction studies. Four patients with short stature of varying aetiology showed unilateral and one showed bilateral weakness of foot dorsiflexion. Both clinical and electrophysiological abnormalities consistent with involvement of the peroneal nerve were observed early after starting tibial callotasis. There was some progressive electrophysiological improvement despite continued bone distraction, but two patients with Turner's syndrome had incomplete recovery. A greater percentage increase in tibial length did not correspond to a higher rate of peroneal nerve palsy. The function of the posterior leg muscles and the conduction velocity of the posterior tibial nerve were normal throughout the monitoring period. The F-wave response showed a longer latency at the end of the bone distraction than in basal conditions; this is probably related to the slowing of conduction throughout the entire length of the nerve.

Otologic impairments in achondroplasia: a nosologic assessment.

The AA report a clinical and radiological study performed in 18 achondroplastic patients in order to achieve a nosological settlement of the otological impairments. They found two main otological syndromes; one, a congenital dysplasic syndrome, showing permanent conductive or sensory-neural hearing loss due to malformations of the middle ear or of the inner ear; the other, an inflammatory tubal tympanic syndrome with transient conductive hearing loss, which is relatively frequent in achondroplastic patients, but seems not related to the main disease.