Neurological Disorders & Epilepsy Journal

Research Article
Challenges in Sensory Integration and Processing in the Child with
Wolf-Hirschhorn Syndrome
Isabelle Beaudry-Bellefeuille* and Tania Moriyón-Iglesias
Occupational Therapists, Pediatric Occupational Therapy Clinic Beaudry-Bellefeuille, Spain

ARTICLE INFO ABSTRACT

Challenges in sensory integration and processing occur when the central nervous
Received Date: August 30, 2018
Accepted Date: February 02, 2019 system is not able to adequately detect, interpret and respond to sensory information
Published Date: February 07, 2019 captured by the various sense organs. Difficulty integrating and processing sensory

KEYWORDS information adequately, impacts environmental interaction and the capacity to

respond effectively to external stimuli and sensory input from one's own body. The
Wolf-hirschhorn syndrome
present study’s aim was to carry out a preliminary exploration of challenges in
Central nervous system
Sensory integration sensory integration and processing in children with Wolf-Hirschhorn Syndrome (WHS).
Parents whose children (n=16) were between 3 and 10 years old completed a Short
Copyright: © 2019 Beaudry- Sensory Profile. The most prominent areas of difficulty were obtained in the Low
Bellefeuille I et al., Neurological Energy / Weak and Under-Responsive / Seeks sensation sections of the Short Sensory
Disorders & Epilepsy Journal. This is an
open access article distributed under Profile. The present study offers a preliminary view on the presence of challenges in
the Creative Commons Attribution sensory integration and processing in children with WHS.
License, which permits unrestricted use, INTRODUCTION
distribution, and reproduction in any
medium, provided the original work is Dr. Jean Ayres, an American occupational therapist, was the first to describe a set of
properly cited. atypical behaviours related to poor sensory integration and processing [1-3]. She
referred to this as a sensory integration dysfunction and described a situation in which
Citation for this article: Isabelle
Beaudry-Bellefeuille and Tania the Central Nervous System (CNS) is not able to adequately detect, interpret and
Moriyón-Iglesias. Challenges in Sensory respond functionally to sensory information captured by the various sense organs [4].
Integration and Processing in the Child She proposed that the way in which the CNS processes, integrates, and responds to
with Wolf-Hirschhorn Syndrome.
Neurological Disorders & Epilepsy sensation affects cognitive, motor, emotional, regulatory, and adaptive behaviour.
Journal. 2019; 2(1):120 Although the exact neuronal mechanisms related to sensory integration are not
completely understood [5-7], the brain–behavior interactions posited by Ayres are
gaining support and validation [4]. Challenges in sensory integration and processing
include concerns about sensory reactivity (i.e., the process of modulating neuronal
activity in response to sensory stimuli) and/or perception (i.e., the ability to recognize
and interpret sensory stimuli). Sensory integration and processing issues can
profoundly affect development and the capacity to participate in daily life
occupations [4,8]. Simple activities such as eating, dressing, bathing or playing can
Corresponding author:
Isabelle Beaudry-Bellefeuille, become difficult challenges to overcome, and in many cases, the causes of the
Occupational Therapists, Pediatric difficulty are attributed to other reasons. Challenges in sensory integration and
Occupational Therapy Clinic Beaudry- processing are frequently associated with neurodevelopmental and genetic conditions
Bellefeuille, Spain,
[9-12]. It is estimated that 40% to 88% of children with a diagnosed disability
Email:
[email protected]. experience challenges in sensory integration and processing [13-15]. However, little is
au known about the sensory concerns in people with Wolf-Hirschhorn Syndrome (WHS).

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Challenges in Sensory Integration and Processing in the Child with Wolf-Hirschhorn Syndrome. Neurological Disorders &
Epilepsy Journal. 2019; 2(1):120.
Neurological Disorders & Epilepsy Journal

Wolf and Hirschhorn [16,17] described a genetic syndrome Sensitivity (3 items), Underresponsive/Seeks Sensation (7
caused by a partial deletion of the short arm of chromosome 4 items), Auditory Filtering (6 items), Low Energy/Weak (6 items)
for the first time in 1965. Delays in motor functions, cognition, and Visual/Auditory Sensitivity (5 items). The Sensitivity sections
regulatory functions such as sleep-wake cycles and include items designed to capture over-reactivity to sensations.
communication abilities are all reported to be highly prevalent For example, refusal or expressions of fear or pain to sensory-
in children with Wolf-Hirschhorn Syndrome (WHS) [18]. These laden activities are hypothesized to be manifestations of
types of functional difficulties have been linked with challenges sensory over-reactivity [2,22,24-26]. The Auditory Filtering
in sensory integration and processing in other diagnostic groups section includes items related to processing of auditory
[4]. Furthermore, occupational therapy clinical experience with information, especially as it relates to using and screening out
children with WHS has raised concerns relative to difficulties auditory input in daily life [21]. The items of the
processing sensory input. A common participation challenge, Underresponsive/Seeks Sensation section refer to behaviours
which motivates referrals to occupational therapy, is the lack of linked to awareness of sensory stimuli in different sensory
purposeful interaction with objects, which impacts play and systems. For example, items such as not noticing that one’s
self-care. For example, children with WHS often do not show clothes are twisted or seeking intense movement are part of
interest in manipulating toys or using a spoon for self-feeding. this section [21]. Finally, the items of the Low Energy/Weak
The vestibular and proprioceptive systems are of particular section reflect behaviours related to the ability to use muscles
concern, given that issues with posture and movement are often and move [21]. Difficulties in this area can be manifestations of
identified as factors affecting participation; poor posture and challenges processing proprioceptive input [19] and items refer
stability impact hand use for object manipulation. Perception of to observations such as weak muscles and postural difficulties
tactile input is also of concern given its role in learning new [21].
motor skills [19]. The present study’s aim was to carry out a Each item is scored on a Likert scale from 1 to 5. A low score
preliminary exploration of sensory integration issues in children on this questionnaire reflects greater difficulty in processing
with WHS. sensory input. Scores are interpreted relative to the mean of
METHODOLOGY the normative sample of children without disabilities (n=1037
During the annual meeting (2016) of the Spanish Association of [27]; Typical Performance (TP; within 1 standard deviation of
WHS (AESWH; abbreviation in Spanish), parents of three to the mean), Probable Difference (PD; below 1 standard
ten-year-old children diagnosed with WHS were invited to deviation) or Definite Difference (DD; below 2 standard
complete the Short Sensory Profile [20]. This questionnaire is deviations). Reports of the analysis of the normative sample
used to obtain information about children's reactions to showed that age and gender differences were small and not
everyday sensory experiences and screens for challenges in meaningful for clinical application [27]. In the present study,
sensory integration and processing. The Short Sensory Profile the results were analysed using a one-sample t-test relative to
(SSP) [20] is a 38 item condensed version of the original 125 the lower cut-off score for typical performance in the
item Sensory Profile (SP) [21]. The validity of these tools is well normative sample (specific mean values of the normative
established and sensory questionnaires are considered an sample are not published in the manual). Participation was
acceptable method of screening for challenges in sensory voluntary and approved by the board of directors of the
processing [21,22]. The SSP, translated to Spanish (S-SSP) for AESWH. Members of the AESWH carried out the data
use with Spanish speakers living in the United States and collection. The researchers had no access to identifiable data.
distributed by the publisher, has been revised and culturally RESULTS
adapted for Spain [23]. This revised version was used in the Twenty-nine parents participated in the study providing
present study. information on the reactions to sensation of their children with
The 38 items of the SSP are divided into 7 categories: Tactile WHS. The questionnaires from 12 parents were omitted from
Sensitivity (8 items), Taste/Smell Sensitivity (4 items), Movement the analysis because their children fell outside the established

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Challenges in Sensory Integration and Processing in the Child with Wolf-Hirschhorn Syndrome. Neurological Disorders &
Epilepsy Journal. 2019; 2(1):120.
Neurological Disorders & Epilepsy Journal

age range of the SSP (3 to 10 years). One questionnaire was

omitted from the analysis due to missing data. The final Table 2: SSP results and comparison with cut-off score of
typical performance in children without disabilities
analysis was carried out on the data provided by 16 parents Mean Cut-
representing 16 children with WHS aged 3 to 10 years (Table Score off Diffe
SSP 95%
(SD) scor renc t p d
Category C.I.
1). A one-sample t-test was run to examine the difference WHS e e
(n=16) T.P.
between the mean scores of each SSP category of our sample Tactile 28.13 -1.23 to
30 1.87 -1.289 .217 -
Sensitivity (5.82) 4.98
of children with WHS and the cut-off score for typical Taste/Smell 12.94 -0.59 to
15 2.06 -1.659 .118 -
performance in the normative sample. There were no outliers in Sensitivity (4.97) 4.71
Movement 12.50 -1.38 to
13 0.50 -.568 .578 -
the data of four of the SSP categories, as assessed by Sensitivity (3.52) 2.38
Under
inspection of a box plot. There were two outliers in the Tactile responsive. 21.06 2.31 to
27 5.94 -3.489 .003 .87
Seeks (6.81) 9.56
Sensitivity and Movement Sensitivity categories, and in the
Sensation
Visual/Auditory Sensitivity category, there was one outlier. All Auditory 19.94
23 3.06
-0.08 to
-2.079 .055 -
Filtering (5.89) 6.20
outliers were low scores and we opted to include them in the Low 16.25 5.78 to
26 9.75 -5.240 .000 1.31
Energy/Weak (7.44) 13.72
analysis because verification showed they did not affect the Visual/Auditor 17.63 -0.96 to
19 1.37 -1.256 .228 -
result of the one-sample t-test (analysis with and without the y Sensitivity (4.38) 3.71
WHS: Wolf-Hirschoorn Syndrome; SD: Standard Deviation; TP:
outliers yielded the same result). Scores in five of the SSP Typical Performance; CI: Confidence Interval; t = observed t
categories were normally distributed, as assessed by Shapiro- value; p = p value (If p > .05, the difference is not statistically
significant); d = Cohen's dcalculated for values that were
Wilk's test (p > .05). Only the scores form the Tactile Sensitivity statistically significant
and Movement Sensitivity categories were not normally
DISCUSSION
distributed. However, given that non-normality does not affect
The present study offers a preliminary view on the presence of
Type I error rate substantially and that the one-sample t-test
challenges in sensory integration and processing in children with
can be considered fairly robust to deviations from normality
WHS. The results point to the need to take into account sensory
[28], we opted to run the one-sample t-test regardless of this
issues as a possible factor that contributes to the
deviation. In all of the SSP categories, the group mean for
developmental and participation difficulties experienced by
children with WHS was below the Typical Performance cut-off
this population. Two categories of the SSP,
score. The means of two categories (Underresponsive/Seeks
Underresponsive/Seeks Sensation and Low Energy/Weak,
Sensation, Low Energy/Weak) fell in the Definite Difference
were specifically identified as problematic in our sample of
range and the rest of the category means fell in the Probable
children with WHS. An atypical score in the Under-
Difference range. However, the differences were statistically
Responsive/Seeks Sensation section may be a manifestation of
significant only for two categories: Underresponsive/Seeks
difficulties in registering or becoming aware of sensory
Sensation and Low Energy/Weak (Table 2). These statistically
information [21]. People with these kinds of difficulties often
significant differences were also found to be of significant
have a need to experience sensation at more intense levels
magnitude with a large effect size (> .8) [29].
than most individuals to become aware of sensory information
Table 1: WHS aged 3 to 10 years.
[30,31]. Proxy questionnaires do not offer a complete
AGE (years) Frequency Percent
3 4 25.0 understanding of sensory challenges, especially in the area of
4 2 12.5 sensory perception, and direct assessment is needed to
6 1 6.3
complement data collected from questionnaires such as the SSP
7 3 18.8
8 2 12.5
[26,32]. However, observations of lack of awareness and
9 1 6.3 seeking of sensory input may be an indication of difficulty
10 3 18.8 perceiving sensation [19]. Given that adequate perception of
Total 16 100.0
sensory input is essential for adequate postural control and

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Challenges in Sensory Integration and Processing in the Child with Wolf-Hirschhorn Syndrome. Neurological Disorders &
Epilepsy Journal. 2019; 2(1):120.
Neurological Disorders & Epilepsy Journal

learning new skills, consideration of challenges in sensory evidence supporting the use of occupational therapy in
registration and perception should be a part of the assessment improving participation in children with sensory issues is
of children with WHS. Postural control and learning new skills growing [8,34,35]. However, none of the studies has included
are of particular concern in WHS [18]. For example, children with WHS, thus formally examining intervention in this
Sabbadini et al [18] reports that 91% of individuals were not population is needed.
self-sufficient in eating, dressing, washing or going to the ACKNOWLEDGEMENTS
bathroom. Many thanks to the AESWH and to all the parents who
The other category of the SSP found to be of concern in our participated in this study.
sample was the Low Energy/Weak category. An atypical score REFERENCE
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Epilepsy Journal. 2019; 2(1):120.