Jenny Ault

The natural history and osteodystrophy of mucolipidosis types II and III

Aim:  To assess the natural history and impact of the secondary bone disease observed in patients with mucolipidosis (ML) II and III.

Cyclic bisphosphonate therapy in osteogenesis imperfecta type V

Abstract:  The clinical and radiographic features and management of a young person with recently delineated Osteogenesis Imperfecta Type V is described. A female aged 9 years presented with a history of multiple fractures since 3 years of age and bilateral dislocation of the elbows from infancy. She was commenced on a low dose frequent regimen of cyclic intravenous pamidronate, which resulted in progressive improvement in bone density, reduced fracture frequency and remission of symptoms of osteoporosis.

Functional performance in young Australian children with achondroplasia

Aim  The aim of this study was to determine population‐specific developmental milestones for independence in self‐care, mobility, and social cognitive skills in children with achondroplasia, the most common skeletal dysplasia.

Developmental milestones in infants and young australasian children with achondroplasia

Background: Achondroplasia, the most common form of chondrodysplasia (inherited skeletal dysplasia), is characterized by a significant delay in the development of communication and motor skills, particularly during the first 2 years. Although some information regarding timing of development for children with achondroplasia is available, no study has evaluated simultaneously the pattern of skill development across multiple key developmental areas. Method: This study used a retrospective questionnaire to quantify developmental data on milestone achievement. Twenty families of children with achondroplasia throughout Australia and New Zealand were asked to document age of acquisition for 41 gross motor, fine motor, and communication and feeding milestones. More than one half of the items assessed were milestones identified in the Australian State Government Personal Health Record Books. The results are compared with previously available information regarding development of motor skills by a cohort of American children with achondroplasia. Results: Although the results support previously reported delays in gross motor and communication skill development, fine motor development does not seem to be as delayed as previously suggested. Information on development of self-feeding skills is presented for the first time and occurs later in this group than the typically developing population. We describe 2 distinctive and previously unreported methods of transitioning between static positions commonly used by children with achondroplasia. Conclusion: Delays were reported across gross motor and communication and feeding skills but were not observed during development of fine motor skills. Additional information is also offered regarding a variety of unusual movement strategies demonstrated by young children with achondroplasia.

Development in Children with Achondroplasia: A Prospective Clinical Cohort Study.

Aim  Achondroplasia is characterized by delays in the development of communication and motor skills. While previously reported developmental profiles exist across gross motor, fine motor, feeding, and communication skills, there has been no prospective study of development across multiple areas simultaneously.

Medical management of children with achondroplasia : evaluation of an Australasian cohort aged 0-5 years

Aims:  Achondroplasia is the most common form of osteochondrodysplasia and is associated with a number of life‐threatening complications. The complexity of the condition led to the development of Heath Supervision Guidelines published by the American Academy of Pediatrics in 1995 and revised in 2005. There remains limited population‐based information on utilisation of medical and therapy services for children with achondroplasia. Increased information regarding use of these services will assist in future service development.

The effect of height, weight and head circumference on gross motor development in achondroplasia

This study aimed to investigate whether height, weight, head circumference and/or relationships between these factors are associated with gross motor milestone acquisition in children with achondroplasia.