DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY ORIGINAL ARTICLE

Neurodevelopmental disorders in children with severe to profound

sensorineural hearing loss: a clinical study
ANNA M CHILOSI 1 | ALESSANDRO COMPARINI 1 | MARIA F SCUSA 3 | STEFANO BERRETTINI 2 | FRANCESCA
FORLI 2 | ROBERTA BATTINI 1 | PAOLA CIPRIANI 1 | GIOVANNI CIONI 1 ,3

1 Department of Developmental Neuroscience, IRCCS Stella Maris, Pisa, Italy. 2 Department of Neuroscience, Otology-Cochlear Implante Centre, University of Pisa, Italy.
3 Division of Child Neurology and Psychiatry, University of Pisa, Italy.
Correspondence to Dr Anna Maria Chilosi, Department of Developmental Neuroscience, IRCCS Stella Maris, Via dei Giacinti 2, 56128 Calambrone, Pisa, Italy. E-mail: achilosi@inpe.unipi.it

This article is commented on by Grether on page 791 of this issue.

PUBLICATION DATA
Accepted for publication 16th December 2009.
Published online 19th March 2010.
LIST OF ABBREVIATIONS
PDD Pervasive developmental disorder
SNHL Sensorineural hearing loss
AIM The effects of sensorineural hearing loss (SNHL) are often complicated by additional disabili-
ties, but the epidemiology of associated disorders is not clearly defined. The aim of this study was
to evaluate the frequency and type of additional neurodevelopmental disabilities in a sample of
children with SNHL and to investigate the relation between these additional disabilities and the
aetiology of deafness.
METHOD One hundred children with severe ⁄ profound SNHL (60 males, 40 females; mean age 5y
7mo, SD 3y 6mo, range 8mo–16y) were investigated using a diagnostic protocol including
neurodevelopmental, genetic, neurometabolic, and brain magnetic resonance imaging (MRI)
assessment.
RESULTS Forty-eight per cent of the sample exhibited one or more additional disabilities, with
cognitive, behavioural–emotional, and motor disorders being the most frequent. The risk of addi-
tional disabilities varied according to the type of aetiology. Thirty-seven out of 80 individuals with
available MRIs showed signal abnormalities, in particular brain malformations (46%) and white
matter abnormalities (54%). Frequency and type of disability were associated with aetiology
(p=0.015) and MRI data (p<0.001).
INTERPRETATION A multidimensional evaluation, including aetiological, neurodevelopmental,
and MRI investigation, is needed for planning therapeutic intervention, such as cochlear implanta-
tion in children with severe to profound hearing impairment. The aetiology of deafness is a rele-
vant risk indicator for the presence of an associated disorder.

According to the literature, sensorineural hearing loss
(SNHL) is complicated by additional disabilities in about 30%
of individuals,1–5 but the epidemiology of associated disorders,
in terms of type, frequency, and aetiology, is still not clearly
defined. A wide variety of additional disabling conditions have
been described in children with severe to profound hearing
impairment, sometimes as part of a named syndrome (i.e.
CHARGE [coloboma, heart defects, choanal atresia retarded
growth and development, ear anomaly ⁄ deafness], Waarden-
burg, Usher, and Goldenhar syndromes), or as comorbid to
deafness of known or unknown aetiology. Studies on addi-
tional disabilities are difficult to perform and interpret. The
heterogeneity of definition and inclusion criteria (such as
severity of cognitive disability) has led to widely differing
results from various studies. Moreover, the relation between
deafness and disability can raise contradictory interpretations
that may be related to aetiology or a secondary association.
Additional disabilities in a child with severe to profound
hearing impairment have important consequences when
assessing and choosing a therapeutic treatment, in particular
when considering cochlear implantation or hearing aids.
Given the costs of cochlear implantation, clear criteria
for evaluating possible risks and benefits and meeting par-
ents’ expectations are indispensable.6 The preoperative
assessment and the postoperative rehabilitation and follow-
up of children with multiple impairments imply special
diagnostic difficulties and the need for a multidisciplinary
approach. In addition, there is no universal agreement on
the potential benefits of cochlear implantation for children
with multiple impairments.7 Thus, cochlear implantation in
children with SNHL and associated disabilities is an
emerging issue where the challenge is to define prognostic
indicators correctly.
The aim of the present study, therefore, was twofold: (1)
to evaluate frequency, type, and severity of additional
(motor, cognitive, behavioural, epileptic) neurodevelop-
mental disabilities in a sample of children with SNHL
using a comprehensive diagnostic protocol that included
neuroradiological investigation by magnetic resonance
imaging (MRI); (2) to investigate the relation between
aetiology and additional disabilities by type and severity of
disease.

856 DOI: 10.1111/j.1469-8749.2010.03621.x ª The Authors. Journal compilation ª Mac Keith Press 2010
METHOD
Participants
The sample consisted of 100 children with SNHL, consecu-
tively referred to the Department of Developmental Neurosci-
ence, IRCCS Stella Maris, Pisa, Italy, for neurological and
psychiatric evaluation from January 2005 to December 2008.
Most of the children were referred by audiological centres
during cochlear implant re-evaluation or during post-implan-
tation follow-up.
The group included 60 males and 40 females, with a mean
age at the time of assessment of 5 years 7 months (SD 3y 6mo;
range 8mo–16y). Fifty-seven children had cochlear implanta-
tion and 43 had hearing aids at the time of assessment.
The inclusion criteria were (1) bilateral pre- ⁄ peri-verbal
profound ⁄ severe hearing loss documented by a complete audi-
ological assessment, (2) age not more than 18 years, and (3)
fully available results from diagnostic investigations, per-
formed according to the protocol reported below.
For more details on sample characteristics, see Table SI
(published online only).
Neurological and psychiatric assessment
The assessment protocol was based on a multidisciplinary
approach and administered by child neuropsychiatrists with
experience in developmental disorders. For a description of
the assessment protocol with indication of some scoring crite-
ria for making the diagnosis of neurodevelopmental disorders
see Table SII (published online only).
All children underwent a comprehensive clinical and labora-
tory investigation that included the following evaluations: fam-
ily history and medical record of the child’s pre-, peri-, and
postnatal clinically significant events; routine haematology and
biochemistry tests of ammonia and lactate, serum and urine
amino acids, urinary mucopolysaccharides, and organic acids;
thyroid function; connexin 26 and 30 and molecular analysis of
mitochondrial DNA for the presence of mutations to A1555G
and A3243G;8 high-resolution chromosome tests and specific
genetic analyses in children with additional cognitive disabili-
ties and ⁄ or dysmorphic features; awake and asleep electroen-
cephalogram; and brain MRI in all the children suitable for
cochlear implantation according to our centre’s criteria.7
In the presence of MRI white matter abnormalities, or if the
medical history or clinical signs seemed to indicate a neuro-
degenerative disease, a battery of tests was performed that
included specific neurometabolic tests, mutational analysis of
mitochondrial DNA, muscle biopsy, studies of cerebrospinal
fluid, and other neurophysiological studies (visual and somato-
sensory evoked potentials, nerve conduction velocity).
Other, more specific molecular–cytogenetic studies, i.e.
array-based comparative genome hybridization, were also per-
formed in individuals with brain malformations including
migration disorders such as focal dysplasia and periventricular
nodular heterotopia.
Audiological assessment
The audiological assessment included a comprehensive evalua-
tion based on objective (otoacoustic emissions, auditory
What this paper adds
• This study adds new information about children with sensorineural hearing
loss, who frequently present with a variety of disorders.
• It provides information to assist clinicians and families in predicting outcomes
and adjusting expectations for these children.
brainstem responses, impedance testing with stapedial reflexes
study) and subjective (behavioural audiometry) methods. The
hearing threshold was calculated with pure-tone audiometry
between 0.5, 1, and 2kHz, and deafness severity was defined
according to the Bureau International d’Audiophonologie.9
For more details see Table SIII (published online only).
Additional disabilities
The additional neurodevelopmental disorders were classified
into the following categories: motor disorders; cognitive dis-
ability (DSM-IV);10 pervasive developmental disorders
(PDDs; DSM-IV);10 behavioural and emotional disorders
(including, according to DSM-IV, attention-deficit–hyper-
activity disorder, oppositional defiant disorder, depression);
and epilepsy.
If a child exhibited more than one additional disability, we
defined the disorder additional to deafness as primary accord-
ing to the two clinical criteria stated by DSM-IV: (1) the rea-
son for visit and (2) the clinical significance of the disability,
which causes significant distress or impairment in social, occu-
pational, or other important functional areas.
Because it is still debated if language and learning dis-
orders in children with hearing impairment are additional
to deafness or a direct consequence of it,11 these disorders
were not included among additional disabilities in the present
study.
Aetiology
Aetiology was classified into the following main categories:
unknown, if the cause of deafness remained unknown, despite
the comprehensive evaluation; hereditary non-syndromic
(mutation in connexion 26 and 30); hereditary syndromic (i.e.
Jervell and Lange-Nielsen, CHARGE, Goldenhar, and chro-
mosomal syndromes); pre-perinatal (preterm birth and
hypoxia); and infections: intrauterine (TORCH [toxoplasma,
rubella, cytomegalovirus, herpes simplex] complex) and post-
natal (meningitis).
In addition to the above conditions, a new category was
included, termed ‘presumably syndromic’ because of the asso-
ciation between deafness and brain malformations of an un-
determined origin.
Magnetic resonance imaging
MRI studies were performed using a 1.5T system (GE LX
Signa Horizon System Milwaukee, USA). The protocol
included conventional sequences (fluid-attenuated inversion
recovery [FLAIR]-, T1-, and T2-weighted images) in the
axial, coronal, and sagittal planes.
Images were interpreted by experienced neuroradiologists
and were classified as follows: normal; areas of abnormal
white matter signals; major brain malformations: migration
Neurodevelopmental Disorders in Children with SNHL Anna M Chilosi et al. 857
disorders (focal dysplasia, periventricular nodular heterotopi- Aetiology of deafness and neurodevelopmental disabilities
as), diffuse brain malformations; and minor brain malforma- Table II shows the number of individuals affected by distinct
tions (arachnoid and pontocerebellar cysts). pathological conditions (when specified) and the number of
The study was approved by the Stella Maris Scientific Insti- children with associated disabilities within each aetiological
tute Ethical Committee. Informed consent was obtained from category. The aetiology of deafness was unknown in 31% of
parents of children participating in this study. children.
Among genetic causes, hereditary non-syndromic deafness
Statistical analysis was documented in 22%, presumably syndromic in 12%, and
The significance of the associations among variables (type of hereditary syndromic in 10% of children.
aetiology, presence of associated disability, presence of MRI Among non-genetic causes, pre-perinatally hypoxic ische-
abnormalities) was evaluated by v2 test for nominal variables mic or vascular disorders were the prevalent aetiologies (17%),
and the magnitude by the Cramer’s V statistic. Analysis of the whereas intrauterine infections were less frequent (8%). This
relative risk between different conditions is reported with 95% percentage might be underestimated, especially for cytomega-
confidence intervals (CIs).12 lovirus infections (observed in six children) that often go unde-
tected, unless the mothers are known to be positive.
RESULTS Analysis of the relation between aetiology and disability
Neurodevelopmental disabilities additional to deafness (Table II, Fig. 1) revealed that different aetiologies have vary-
Neurodevelopmental disabilities were present in 48 out of 100 ing probabilities of being associated with additional
children referred to our clinic. Table I shows the frequency of disabilities (v2=14.2, degrees of freedom [df]=5, p=0.015,
the five categories of primary disability. Cramer’s V=0.38): the lowest rate was observed in unknown
The analysis of the relative distribution of primary disabili- and hereditary non-syndromic deafness (32%); the highest in
ties among affected children showed that motor disorders and presumably syndromic (92%) and hereditary syndromic
cognitive disability were the most frequent conditions; deafness (60%). In the case of intrauterine infections and
behavioural disorders were next, followed by PDD and epi- pre-perinatal causes, the frequency of disability was about
lepsy. PDD was diagnosed in five individuals, three of whom 50%.
were also affected by cognitive disability. Analysis of the relative risk between different conditions
Regarding the severity of the associated disability, we con- showed that the probability of undetermined presumably
sidered, as suggested by others,13 the number of co-occurring syndromic deafness being associated with disability was 2.9
pathologies in the same individual. As shown in Table I, 21 and 2.6 times (respectively) higher than hereditary non-
children presented more than one disability in addition to syndromic (relative risk 2.88; 95% confidence interval [CI]
deafness. 1.52–5.43) and unknown deafness (relative risk 2.58; 95%
In the no-disability group 19 children displayed oral and ⁄ or CI 1.56–4.27). Other comparisons were not statistically sig-
written language disorders, which were not included among nificant.
the additional disabilities in this study.
Aetiology of deafness and types of neurodevelopmental
disability
Table I: Number of children with neurodevelopmental disabilities, consid- Figure 1 shows the distribution, within each aetiological cate-
ered as primary, isolated, and multiple in the sample of 100 children with gory, of the type of neurodevelopmental disorder, by calculat-
sensorineural hearing loss ing its occurrence not only as a primary disability but also in
association with other disorders. Although the subgroups were
Isolated too small to calculate statistical significance, there was a ten-
Primary disabilities disabilities Multiple disabilities dency towards an association between aetiology and type of
Type n Type n Type n disability. In particular, individuals with hereditary syndromic,
presumably syndromic, intrauterine, and pre-perinatal deaf-
None 52
ness were at higher risk of being affected by cognitive disabil-
CD 14 CD 10 CD+BEH 1
CD+PDD 3 ity, compared with unknown and hereditary non-syndromic
MD 14 MD 2 MD+CD 4 deafness. As for motor disorders, the risk was higher in chil-
MD+CD+EP 3
dren with presumably syndromic deafness and pre-perinatal
MD+CD+vision 4
MD+CD+EP+vision 1 lesions in comparison with other conditions.
BEH 13 BEH 12 BEH+CD 1 Motor disorders were mainly represented by cerebral palsy
PDD 5 PDD 2 PDD+CD 3
due to pre-perinatal brain lesions, but also occurred in four
EP 2 EP 1 EP+BEH 1
Total 100 27 21 children with brain malformations of determined or undeter-
individuals mined origin, and in one child with mitochondrial disease;
two children had primary movement disorders.
CD, cognitive disability; BEH, behavioural and emotional disorders;
PDD, pervasive developmental disorder; MD, motor disorder; EP, A rather unexpected result was that about one-third of
epilepsy. children with mutations in connexin 26 or 30 exhibited an

858 Developmental Medicine & Child Neurology 2010, 52: 856–862

 Table II: Occurrence of neurodevelopmental disorders across different aetiological categories in the sample of 100 children with sensorineural hearing loss

Rate of
neurodevelopmental
Aetiology of deafness n disorder

Hereditary Mutation in connexin 26 and 30 22 7 ⁄ 22

non-syndromic (22 ⁄ 100)
Presumably SNHL associated to migration 3 11 ⁄ 12
syndromic (12 ⁄ 100) Disorders: focal dysplasia
SNHL associated to migration 3
Disorders: periventricular
nodular heterotopia
SNHL associated to diffuse 6
malformations of the central
nervous system
Hereditary Jervell and Lange-Nielsen syndrome 2 6 ⁄ 10
syndromic (10 ⁄ 100) Down syndrome 1
De George syndrome 1
Other chromosomal anomalies 3
Goldenhar syndrome 1
Pendred syndrome 1
CHARGE syndrome 1
Perinatal (17 ⁄ 100) Preterm birth and hypoxia 17 9 ⁄ 17
Intrauterine Rubella 2 4⁄8
infections (8 ⁄ 100) Cytomegalovirus 6
Unknown (31 ⁄ 100) 31 11 ⁄ 31

SNHL, sensorineural hearing loss; CHARGE, coloboma, heart, atresia choanae, retarded growth and development, ear anomaly ⁄ deafness.

100
90
80
70
60 BEH
%

50 Epil
40
PDD
30
20 MD
10 CD
0
Unknown Her NonSyndr Her Syndr Presum Syndr Infection Pre-perinatal

Cause of hearing loss

Figure 1: Distribution of the different neurodevelopmental disorders within each aetiological category. MD, Motor Disorders; CD, Cognitive disability; PDD,
Pervasive Developmental Disorders; Epi, Epilepsy; BEH, Behavioural and emotional disorders; Her, Hereditary; Syndr, Syndromic; Pres, Presumably; Infect,
Infection.

associated disability: three children were affected by behavio-
ural disorders, one by epilepsy, one by motor disorder, and
one by epilepsy and cognitive disability.
Neuroimaging and neurodevelopmental disabilities
MRIs were available for 80 out of 100 individuals; there were
no differences between children with hearing impairment,
with and without available MRIs in terms of either type of
associated disabilities (v2=1.53; df=5; p=0.91) or aetiology of
deafness (v2=0.89; df=5; p=0.97). About half of the children
had normal MRIs (Table III).
MRI abnormalities were represented by abnormal white
matter signals in 54% of individuals and by brain malforma-
tions in 38% (six individuals with neuronal migration anoma-
lies and seven with diffuse brain malformations involving the
posterior fossa and cerebellum). In three children with nodular
heterotopias an array-based comparative genome hybridiza-
tion analysis was performed. One out of three children
presented a deletion, Cr6p25.3, whereas in the other two the
analysis was negative.
Minor brain malformations (8%) were present in three indi-
viduals with mutation in connexin 26.
The association between aetiology and presence of MRI
abnormalities (reported in Table SIV, published online only)
was statistically significant (v2=31.1; df=5; p<0.001; Cramer’s
V=0.62). Most of the individuals with normal MRIs were

Neurodevelopmental Disorders in Children with SNHL Anna M Chilosi et al. 859

 Table III: Occurrence of magnetic resonance imaging (MRI) abnormalities and rate of disability in 80 children with sensorineural hearing loss

MRI n (%) Brain abnormalities n Rate of disability

Abnormal 36 ⁄ 80 (45) Areas of 19 14 ⁄ 19

abnormal white
matter signals
(54%)
Migration Focal dysplasia 2 12 ⁄ 14
disorders and Left hemisphere complex 1
diffuse brain malformation with dysplasia
malformations and brainstem hypotrophy
(38%) Periventricular nodular 2
heterotopia
Complex malformations 1
with heterotopia
Holoprosencephaly 1
Cerebellar and brainstem 1
hypotrophy
Triventricular hydrocephalus, 1
hypoplasia of posterior fossa
and hippocampus inversion
Cerebellar vermis and 1
brainstem hypoplasia
Hippocampus inversion 1
Cisterna magna enlargement, 1
left cerebellar hypoplasia
Posterior fossa malformation 1
and hydrocephalus
Posterior vermis and pons 1
hypoplasia, ventricular
supratentorial and
subarachnoid space
enlargement
Minor brain Pontocerebellar cyst 1 0⁄3
malformations Arachnoid cyst 2
(8%)
Normal 44 ⁄ 80 (55) None 44 16 ⁄ 44

affected by aetiologically unknown or hereditary non-syndro- DISCUSSION

mic deafness (32 ⁄ 44); abnormal white matter signals were typ-
ically associated with pre-perinatal pathologies and with
intrauterine infections, but were also observed in three chil-
dren with deafness of unknown aetiology. SNHL associated
with migration disorders and diffuse brain malformations was
part of complex, nosologically undetermined syndromes of
presumably malformative origin.
The analysis of the association between MRI findings and
neurodevelopmental disorders additional to deafness, revealed
a strong relation between brain abnormalities and disability
(v2=17.5; df=3; p=0.001; Cramer’s V=0.47). In particular, the
risk of associated disabilities was two times higher in the
presence of white matter alterations compared with normal
MRI (relative risk 2.02; 95% CI 1.26–3.25). The risk
increased even more in children with migration disorders and
diffuse brain malformations, with respect to normal MRI
(relative risk 2.35; 95% CI 1.51–3.67); whereas minor brain
malformations were not associated with any neurological or
psychiatric abnormality.
Cognitive disability and motor disorders were the most fre-
quent disorders associated with white matter abnormalities,
migration disorders, and diffuse brain malformations.
Behavioural disorders and PDD were frequently observed in
the absence of any MRI alteration.
With the advent of cochlear implantation and the broadening
of candidacy criteria for this, more children with SNHL and
associated disorders are being assessed in cochlear implanta-
tion centres by multidisciplinary evaluation. Paediatricians,
child neurologists, and psychiatrists may be requested there-
fore, to formulate a full diagnostic and prognostic evaluation.
The purpose of this study was to determine the frequency and
type of neurodevelopmental disabilities additional to deafness
in a very large group of children with profound ⁄ severe SNHL
of different aetiology. This study offers some new insights into
children with SNHL, who frequently present a variety of dis-
orders in different combinations. It may assist clinicians and
families to predict results and adapt their expectations by
understanding which disabilities are likely to co-occur with
SNHL.
In our sample, the proportion of children affected by
neurodevelopmental disabilities was rather high compared
with the general population. At least one additional disabil-
ity, not directly caused by hearing impairment, was found
in 48 out of 100 children. Of course, this high proportion
may be partly because they were studied in a national refer-
ence centre for developmental neurological and psychiatric
disorders.

860 Developmental Medicine & Child Neurology 2010, 52: 856–862

 The most frequently associated conditions were represented
by cognitive disabilities and motor disorders (mainly cerebral
palsy), followed by behavioural–emotional disorders. Nearly
half of the affected children exhibited more than one disability.
The aetiology of deafness was heterogeneous and the propor-
tion of unknown aetiology was slightly lower than that
reported by Morzaria et al.14 in their meta-analysis of a large
series of published papers on the aetiology of SNHL, but still
falling within the first standard deviation interval indicated by
those authors. This suggests that our sample may be consid-
ered fairly representative of the paediatric population with
SNHL and that the systematic application of exhaustive and
multidisciplinary diagnostic protocols may lead to a progres-
sive reduction of the frequency of unknown aetiology.13–16
An important result of the present study was the evidence
gathered on the relevance of aetiology as an indicator of risk
for additional disabilities. The risk of multiple disabilities was
much lower in the case of unknown deafness and hereditary
non-syndromic SNHL, owing to alterations of the connexin
genes, compared with other aetiologies. Nonetheless, about
one-third of the children with hereditary non-syndromic deaf-
ness exhibited additional disabilities. Therefore, as pointed out
by Wiley et al.17 and Kenna et al.,18 the presence of connexin
mutations may also be suspected in children with neurological
and ⁄ or psychiatric disorders.
The risk of multiple disabilities was high in children with
hereditary syndromic deafness, in the case of pre-perinatal dis-
orders and in children with hearing impairment with major
brain malformations on MRI. This latter condition, which we
have designated as ‘presumably syndromic’, might be a new
distinct entity to be specified in terms of aetiopathogenesis
and possible causative genes.
Our study is one of the few that have investigated the rela-
tion between aetiology and disability in children with severe to
profound hearing impairment by including MRI examination
in their clinical protocol.
In the study by Lapointe et al.,19 the authors retrospectively
reviewed the results of brain MRI of all consecutive children
with profound SNHL undergoing pre-implantation evalua-
tion. They reported that 20% of their children showed signifi-
cant brain abnormalities, mainly consisting of migrational
disorders, and suggested that MRI should be part of the pre-
implantation protocol for all candidates for cochlear implanta-
tion. Our results provide further evidence that brain MRI is an
important tool in the investigation of the aetiology of deafness
and additional disabilities in children with SNHL. A signifi-
cant number of children with hearing impairment show corti-
cal and subcortical brain abnormalities that may have a
negative impact on their development.
In our sample we observed three instances of periventricular
nodular heterotopias, which may be isolated or part of con-
genital multiple anomaly syndromes. Heterotopias are
reported in the literature as associated with several copy num-
ber variations, including deletion 6q26q27 or 7q11.33,20
duplication 5p15.1 or 5p15.33,21 and 5q14.3–q15 deletion.22
In one of the three children in our study with periventricular
nodular heterotopias undergoing array-based comparative
genome hybridization analysis, a new deletion of chromosome
6, Cr6p25.3, was found.
The association between MRI findings and neurodevelop-
mental disabilities varied according to the severity of brain
alterations: it was pronounced in children with white matter
abnormalities or migration disorders that were associated with
the highest frequency of cognitive disability and motor dis-
orders. In general, we observed that although almost all chil-
dren with major MRI abnormalities were affected by
disabilities, those with minor brain anomalies were free from
neurodevelopment problems. In this respect, however, PDD
did represent a ‘special case’, as most children with PDD had
a normal MRI. This finding confirms that early diagnosis of
PDD requires specific evaluation in all children with hearing
impairment suspected of autism, because this still lacks the
support of a clear biological marker.
In the case of both unknown aetiology and connexin muta-
tions, the risk of MRI anomalies and neurodevelopmental dis-
abilities is rather low. This may be because unknown aetiology
deafness could be linked to genetic mutations not yet identi-
fied, therefore possibly explaining the analogies of these two
groups in terms of neurodevelopmental risk and MRI results.
CONCLUSION
Our sample shows significant and interesting associations
between disabilities and deafness that require extensive neuro-
developmental, laboratory, and neuroradiological investigation
aimed at clarifying aetiology, type, and severity of disability,
particularly for therapeutic intervention.
We suggest, in agreement with Rajput et al.,15 that deafness
aetiology should be considered a possible risk indicator for the
presence of additional disorders. Moreover, the systematic use
of brain MRI could detect cortical abnormalities associated
with SNHL, whose occurrence may contribute to define new
pathological entities, characterized from a neurogenetic view-
point. At the same time, it was found that mutations in
connexin 26 and 30, which are prototypes of isolated non-syn-
dromic deafness, might be associated with neurological and ⁄ or
psychiatric disorders in some children. This finding contrasts
with what is generally reported in the literature and indicates
that the diagnosis of neurodevelopmental disorders additional
to deafness is a complex area of research and represents a rela-
tively new topic for the pathophysiology and genetics of deaf-
ness.
ACKNOWLEDGEMENTS
We thank our colleagues of the ear, nose, and throat departments
who sent their children to our centre. We also thank Pietro Patusi for
statistical advice and Vincent Corsentino for reviewing the English of
the manuscript. The study was partly supported by grants PRIN
2007 and RC 1 ⁄ 08 from the Italian Ministries of University and of
Health.
ONLINE MATERIAL
Additional material and supporting information may be found in the
online version of this article.
Neurodevelopmental Disorders in Children with SNHL Anna M Chilosi et al. 861
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