Developmental Milestones in Infants and Young Australasian Children With Achondroplasia

Abstract

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

“…2,4,6 The 90th centile ages of achievement for those items also assessed by Fowler et al 2 Commando crawling was the most frequently seen preorthograde movement strategy with 100% of the children demonstrating this (Table II). Half the sample (n=24) utilized reverse snow ploughing while forward snow ploughing and traditional crawling were the least frequently seen movement strategies.…”

“…With the exception of a single item (crawling), sample sizes for individual items in this cohort exceed those reported in the only other prospective review of gross and fine motor skills in children with achondroplasia by Fowler et al 2 The current study also included assessment of communication skills, previously only reported retrospectively, 4,6 and feeding skills which have only been considered once previously. 4 The prospective evaluation of development across multiple areas provides clinicians with a clearer understanding of the nature and timing of skill development in children with achondroplasia. More detailed data and the provision of an evaluation form for use in the clinical setting will improve reference standards and assist clinicians and families to identify more accurately young children with achondroplasia performing outside expected condition-specific developmental trajectories.…”

“…2,4,6 Despite available information, only one study evaluated skill development across multiple areas simultaneously. 4 Assembling condition-specific developmental profiles through prospective longitudinally-based studies for a lowincidence condition is challenging, and data on milestone attainment for many rare conditions have been provided through retrospective reviews of parent recall or chart audits. [8][9][10] However, while providing valuable information regarding development, use of data gathered through retrospective recall may influence accuracy of results because parental recall for achievement of milestones is likely to dimin- ish with time.…”

“…Current results support previous findings that children with achondroplasia demonstrate a number of unique preambulation movement strategies including reverse and forward snow ploughing. 2,4 Commando crawling was the most popular preambulation motor strategy in all participants, which would allow children to accommodate the rhizomelic limb shortening and hypotonia more effectively, through increased proximity to the floor. Less than one-third (n=15) of the children demonstrated the more typical four-point crawling.…”

“…Items in the questionnaire also included the five specific forms of preambulant locomotion identified by Fowler et al 2 and the common movement sequences observed clinically when a child with achondroplasia transitions from lying to sitting, standing to sitting and sitting to standing. 4 Individual test items were accompanied by a picture or brief written description to improve understanding where applicable.After giving consent, families were sent an initial questionnaire that asked them specifically to record the age (in months and weeks), that their child had previously achieved any of the 41 items. If parents were unclear about when their child achieved an individual skill they were required to mark this as 'unknown'.…”