DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY ORIGINAL ARTICLE
Preliteracy impairments in children with neuroﬁbromatosis type 1
SHELLEY S ARNOLD
JONATHAN M PAYNE
KATHRYN N NORTH
1 Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, NSW; 2 Discipline of Child and Adolescent Health, Sydney Medical
School, The University of Sydney, Sydney, NSW; 3 Murdoch Children’s Research Institute, The Royal Children’s Hospital, Melbourne, Vic.; 4 Department of Pediatrics,
University of Melbourne, Melbourne, Vic.; 5 Children’s Hospital Education Research Institute, The Children’s Hospital at Westmead, Sydney, NSW, Australia.
Correspondence to Belinda Barton at The Children’s Hospital at Westmead, Locked Bag 4001, Westmead 2145, NSW, Australia. E-mail: email@example.com
This article is commented on by Thompson on page 642 of this issue.
Accepted for publication 20th February
Published online 18th April 2018.
NF1 Neuroﬁbromatosis type 1
RAN Rapid automatic naming
SES Socio-economic status
This cross-sectional study aimed to examine the preliteracy abilities of young children
with neuroﬁbromatosis type 1 (NF1) and to identify which of these abilities best predicted
conventional literacy (spelling).
Forty-two children with NF1 (23 males, 19 females; mean age [SD] 5y 6mo [6mo])
were compared with 32 unaffected children (15 males, 17 females; mean age [SD] 5y 4mo
[6mo]). All children completed a comprehensive cognitive assessment including measures of
phonological processing (phonological awareness, phonological memory, rapid automatic
naming) and letter-sound knowledge.
Children with NF1 performed signiﬁcantly poorer than the comparison group across
all cognitive and preliteracy domains, with speciﬁc weaknesses evident in phonological
=14.13, p<0.001, partial g
=0.17), phonological memory (F
=0.17), and letter-sound knowledge (F
=5.65, p=0.020, partial g
=0.07). Within the
group with NF1 group, over a third of children demonstrated impairment in at least one
phonological processing domain and the risk of phonological impairment was 5.60 times that
of unaffected children. Children’s letter-sound knowledge was the strongest predictor of
conventional literacy (spelling).
This study establishes that preliteracy deﬁcits are present and detectable in
young children with NF1. As a result of the high incidence of preliteracy impairment, we
recommend screening phonological awareness and letter-sound knowledge to identify risk of
future learning disorders.
Neuroﬁbromatosis type 1 (NF1) is a common neurogenetic
disorder that affects multiple systems throughout the body.
It is primarily characterized by skin features including caf
au lait spots, axillary freckling, cutaneous neuroﬁbromas,
and iris hamartomas (Lisch nodules).
In addition to physi-
cal manifestations, children with NF1 frequently experi-
ence deﬁcits in a range of cognitive domains including
visuoperception, executive functioning, attention, and lan-
Academic underachievement is also common in
with reading disabilities highly prevalent.
67% of school-aged children with NF1 demonstrate sin-
gle-word reading impairments
and there are high rates of
reading comprehension difﬁculties.
Despite the high inci-
dence of reading impairment in school-aged children with
NF1, little is known about the development of literacy pre-
cursor skills, such as phonological processing in younger
children. So far, the only study that objectively measured
preliteracy skills in young children with NF1 reported sig-
niﬁcantly poorer letter-word identiﬁcation skills in 40-
month-old children with NF1 compared with typically
While these initial ﬁndings suggest
early signs of later literacy difﬁculties are present and iden-
tiﬁable in young children with NF1, the precise nature of
these difﬁculties is unclear.
In the general population, reading difﬁculties often arise
from a language-based impairment involving weaknesses in
processing sounds of spoken language (i.e. phonological
Research has identiﬁed three distinct yet
related processes, each of which play important roles in the
acquisition of literacy skills: (1) phonological awareness,
the ability to recognize and manipulate sounds of oral lan-
guage; (2) phonological memory, the ability to store and
manipulate verbal information in short-term memory; and
(3) phonological naming, the ability to efﬁciently retrieve
information held in long-term memory (also known as
rapid automatic naming [RAN]).
Combined with letter-
sound knowledge, phonological skills are important for
achieving mastery of the alphabetic principle and, ulti-
mately, successful reading and spelling development.
Owing to the high incidence of reading problems in
school-aged children with NF1 and the lifelong negative
implications of literacy difﬁculties,
it is crucial that
© 2018 Mac Keith Press DOI: 10.1111/dmcn.13768 703