16p11.2 microdeletions - Unique - The Rare Chromosome Disorder ...

Mobility
Mobility [gross motor] skills were somewhat delayed in all children, but improved over
time with physical therapy [physiotherapy]. Babies rolled over at 8-10 months; became
mobile [rolling, bumshuffling, crawling, pushing along the floor on the back] at 7-22
months; started to walk at 18-36 months; and could climb stairs by 3-4 years. An
immature walking style persisted in some children. One child had lax joints and very low
muscle tone in the upper torso and benefited from years of occupational and physical
therapy (Unique).
“ He is a phenomenal athlete. He has a small basketball goal, loves
to shoot baskets and will do this for hours - almost 4 years
“ He’s very active and physically age-appropriate – amazing given
his earlier delay. As a younger child he had physiotherapy, a
standing frame and orthotic boots; now he needs none. At school,
he excels at physical activities like football and tennis - 7 years
“ She can do everything, ride a bicycle and run, but she tires quickly
and must then rest; she sits a lot. Her favourite activity is playing
ball - 10 years
“ Normal activities, enjoys swimming, tennis, bike riding - 13 years
Fine motor skills
Fine motor skills were also delayed in 6/7 children for whom
information is available (Battaglia 2009; Hempel 2009; Unique).
“ He seems to have good hand control. He can use safety scissors
to cut paper. He cannot write any letters or his name. When he
draws it is in sporadic scribbles without any definition. When it
comes to sports he has excellent hand control. He can throw a
baseball hard and with accuracy - almost 4 years
“ He has some hypermobility in his hands and uses specialist
caring cutlery - 7 years
“ She was delayed in handling cutlery, toys and writing implements.
Today she accommodates or has overcome her difficulties, although
writing implements are still an issue - 13 years
Personal care and toilet training
Toilet training was achieved, albeit with a delay. One child was dry
during the day at 3½ years and at night by 8¾ years. Information
from Unique suggests that help with washing, tooth cleaning and
other aspects of personal care will be needed for longer than in
typically developing children, with reminders to finish the task in
hand required. At 13, two girls still needed help with personal care
(Ballif 2007; Unique).
“ No help needed most of the time, sometimes with buttons and
zippers - 13 years
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