Abstracts
Purpose
To identify possible speech-language disorders in children with Incontinentia Pigmenti (IP), seeking to characterize the role of speech therapy in the evaluation and management of this genetic condition.
Methods
The sample was composed of seven female children diagnosed with IP.
Results
The patients in the sample had a mean age of 6.4 years. Among the main structural features verified in the patients, highlighted the presence of no physiological diastema and hard palate abnormalities, found both in 85.7 % of the sample, in addition to tooth agenesis in 71.4% of cases. As for functional findings, 71.4 % of the sample had abnormal tongue mobility and 57.1%, inappropriate chewing. As for changes in speech, the main findings consisted of phonetic/phonological alterations, verified in 85.7 % of the sample, being the most common phonetic alteration characterized by distortion of alveolar fricative [s], present in 57.1 % of cases. None of the children had abnormal voice and swallowing according to the used protocol. Furthermore, no detectable hearing abnormality was observed according to claim of the family or by observation during the evaluation.
Conclusion
In this sample the most frequent speech-language alterations verified among the patients with IP were mainly related to the stomatognathic system structures and speech.
Speech; language and hearing sciences; Incontinentia pigmenti; Diastema; Tooth; Palate, hard
Objetivo
Identificar possíveis alterações fonoaudiológicas de crianças com Incontinência Pigmentar (IP), buscando caracterizar o papel da Fonoaudiologia na avaliação e manejo dessa condição genética.
Métodos
A amostra foi composta por sete crianças do gênero feminino com diagnóstico de IP. Todas foram submetidas aos procedimentos de avaliação nas áreas de motricidade orofacial, deglutição, fala e voz.
Resultados
Os pacientes que compuseram a amostra tinham média de idade de 6,4 anos. Dentre as principais características clínicas estruturais verificadas, destacaram-se a presença de diastemas não fisiológicos e anormalidades de palato duro, encontradas em 85,7% da amostra, além da agenesia dentária em 71,4% dos casos. Quanto aos achados funcionais, 71,4 % apresentaram alteração de mobilidade da língua e 57,1 %, mastigação inadequada. Em relação às alterações de fala, os principais achados foram alterações fonéticas e/ou fonológicas, verificadas em 85,7% da amostra, sendo mais comum a alteração fonética caracterizada pela distorção na fricativa alveolar [s], presente em 57,1% dos casos. Nenhuma das crianças apresentou alteração de voz e deglutição, de acordo com o protocolo utilizado. Além disso, não se evidenciou anormalidade de audição, de acordo com a queixa familiar ou por meio da observação durante a avaliação.
Conclusão
Nesta amostra, as alterações fonoaudiológicas mais frequentes entre os pacientes com IP relacionaram-se, principalmente, com as estruturas do sistema estomatognático e com a fala.
Fonoaudiologia; Incontinência pigmentar; Diastema; Dente; Palato duro
INTRODUCTION
Incontinentia pigmenti (IP), or Bloch-Sulzeber syndrome (OMIM #308300) is a rare
X-linked autosomal dominant genetic disease(11 McKusick VA, Kniffin CL. Incontinentia Pigmenti; IP. 1986 Apr 6
[atualizado 13 mar 2014; citado em 19 jan 2015]. In: Online mendelian
inheritance in man [internet]. Baltimore: Johns Hopkins University; 1966.
Disponível em: http://omim.org/entry/308300.
http://omim.org/entry/308300...
,22 Kataguiri P, Martins FCR, Yamanda V, Salomão G, Ribeiro R, Rehder
JRCL. Manifestações clínicas e desafios diagnósticos na síndrome de
incontinentia pigmenti. Rev Bras Oftalmol. 2010;69(6):395-9.
http://dx.doi.org/10.1590/S0034-72802010000600009
http://dx.doi.org/10.1590/S0034-72802010...
). It affects
mainly female neonates, with significant variations in the clinical
manifestation, even in the same family. In most cases, it is considered lethal
for male fetuses still in utero(11 McKusick VA, Kniffin CL. Incontinentia Pigmenti; IP. 1986 Apr 6
[atualizado 13 mar 2014; citado em 19 jan 2015]. In: Online mendelian
inheritance in man [internet]. Baltimore: Johns Hopkins University; 1966.
Disponível em: http://omim.org/entry/308300.
http://omim.org/entry/308300...
,33 Chang JT, Chiu PC, Chen YY, Wang HP, Hsieh KS. Multiple clinical
manifestations and diagnostic challenges of incontinentia pigmenti--12 years’
experience in 1 medical center. J Chin Med Assoc. 2008;71(9):455-60.
http://dx.doi.org/10.1016/S1726-4901(08)70148-5
http://dx.doi.org/10.1016/S1726-4901(08)...
). However, there
are reported cases of male patients with mosaicism for the disease and with
Klinefelter syndrome(44 Pereira MAC, Mesquita LAF, Budel AR, Cabral CSAP, Feltrim AS.
Incontinencia pigmentar ligada ao X ou síndrome de Bloch-Sulzberger: relato de
um caso. An Bras Dermatol. 2010;85(3):372-5.
http://dx.doi.org/10.1590/S0365-05962010000300013
http://dx.doi.org/10.1590/S0365-05962010...
).
The estimated frequency of IP is 1 in 50,000 infants. However, this frequency is
probably greater, since it can be easily missed, due to the highly variable
presentation and lesions that may possibly be confused with other
diseases(55 Llano-Rivas I, Soler-Sánchez T, Málaga-Diéguez I, Fernández-Toral J.
Incontinencia pigmenti: cuatro pacientes con diferentes manifestaciones
clínicas. An Pediatr (Barc). 2012;76(3):156-60.
http://dx.doi.org/10.1016/j.anpedi.2011.09.008
http://dx.doi.org/10.1016/j.anpedi.2011....
). The cause
of IP was attributed to a mutation that inactivates the IKK-gamma gene (IKBKG;
OMIM 300248), also known as NEMO, localized in the region 28 of the X chromosome
long arm. A positive family history for the disease is found in about 50% of
cases(11 McKusick VA, Kniffin CL. Incontinentia Pigmenti; IP. 1986 Apr 6
[atualizado 13 mar 2014; citado em 19 jan 2015]. In: Online mendelian
inheritance in man [internet]. Baltimore: Johns Hopkins University; 1966.
Disponível em: http://omim.org/entry/308300.
http://omim.org/entry/308300...
,66 Succi IB, Rosman FC, Oliveira EF. Você conhece esta síndrome? An
Bras Dermatol. 2011;86(3):601-10.
http://dx.doi.org/10.1590/S0365-05962011000300037
http://dx.doi.org/10.1590/S0365-05962011...
).
The skin manifestations are present in almost all patients with IP and appear in
90% of cases during the second week of life. They are characterized by having
four phases: vesicular, warty, pigmentary and atrophic phases, which may follow
an irregular sequence and have variable duration(66 Succi IB, Rosman FC, Oliveira EF. Você conhece esta síndrome? An
Bras Dermatol. 2011;86(3):601-10.
http://dx.doi.org/10.1590/S0365-05962011000300037
http://dx.doi.org/10.1590/S0365-05962011...
). These are usually the first signs observed in
IP.
Being a multi-systemic disease(77 Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and
update on the molecular basis of pathophysiology. J Am Acad Dermatol.
2002;47(2):169-87. http://dx.doi.org/10.1067/mjd.2002.125949
http://dx.doi.org/10.1067/mjd.2002.12594...
), other findings, in addition to skin, are frequent. Among
these, there are the dental abnormalities, observed in 80% of cases(66 Succi IB, Rosman FC, Oliveira EF. Você conhece esta síndrome? An
Bras Dermatol. 2011;86(3):601-10.
http://dx.doi.org/10.1590/S0365-05962011000300037
http://dx.doi.org/10.1590/S0365-05962011...
) and are mostly tooth agenesis,
delayed dentition and conical teeth(22 Kataguiri P, Martins FCR, Yamanda V, Salomão G, Ribeiro R, Rehder
JRCL. Manifestações clínicas e desafios diagnósticos na síndrome de
incontinentia pigmenti. Rev Bras Oftalmol. 2010;69(6):395-9.
http://dx.doi.org/10.1590/S0034-72802010000600009
http://dx.doi.org/10.1590/S0034-72802010...
). Neurological disorders are not uncommon and represent the
greatest threat to the quality of life of patients with IP(77 Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and
update on the molecular basis of pathophysiology. J Am Acad Dermatol.
2002;47(2):169-87. http://dx.doi.org/10.1067/mjd.2002.125949
http://dx.doi.org/10.1067/mjd.2002.12594...
). These include seizures,
spastic paralysis, developmental delay and microcephaly(66 Succi IB, Rosman FC, Oliveira EF. Você conhece esta síndrome? An
Bras Dermatol. 2011;86(3):601-10.
http://dx.doi.org/10.1590/S0365-05962011000300037
http://dx.doi.org/10.1590/S0365-05962011...
). Eye abnormalities are also
common, being observed in 35% of cases(22 Kataguiri P, Martins FCR, Yamanda V, Salomão G, Ribeiro R, Rehder
JRCL. Manifestações clínicas e desafios diagnósticos na síndrome de
incontinentia pigmenti. Rev Bras Oftalmol. 2010;69(6):395-9.
http://dx.doi.org/10.1590/S0034-72802010000600009
http://dx.doi.org/10.1590/S0034-72802010...
). Other reported and less common alterations include the
involvement of nails, bones, muscles and heart(66 Succi IB, Rosman FC, Oliveira EF. Você conhece esta síndrome? An
Bras Dermatol. 2011;86(3):601-10.
http://dx.doi.org/10.1590/S0365-05962011000300037
http://dx.doi.org/10.1590/S0365-05962011...
7 Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and
update on the molecular basis of pathophysiology. J Am Acad Dermatol.
2002;47(2):169-87. http://dx.doi.org/10.1067/mjd.2002.125949
http://dx.doi.org/10.1067/mjd.2002.12594...
-88 Lamounier FMC, Mansur CA, Corrêa GM, Mansur JS, Mansur LA.
Incontinência pigmentar: relato de dois casos. An Bras Dermatol.
2001;76(1):73-8.). Also
noteworthy are the presence of oral abnormalities, high palate, soft palate
hypoplasia, cleft lip and palate, congenital hearing loss and cognitive
impairment(77 Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and
update on the molecular basis of pathophysiology. J Am Acad Dermatol.
2002;47(2):169-87. http://dx.doi.org/10.1067/mjd.2002.125949
http://dx.doi.org/10.1067/mjd.2002.12594...
).
Given the abnormalities presented by patients with IP, which can arise even after
childhood, these patients may show abnormalities of orofacial motor skills,
speech, language, hearing and swallowing, indicating the importance of
monitoring the speech therapy at the time of assessment, diagnosis and
treatment. However, it is noteworthy the lack of related studies. The insertion
of speech therapy aims at a better quality of life for IP carriers. It is role
of the speech therapist, as a member of the multidisciplinary team, to
characterize the manifestations involving language, speech, hearing and voice,
as well as the functions of the stomatognathic system, as swallowing and
chewing(99 Souza SRB, De-Vitto LPM, Abramides DVM, Santiago G, Costa AR.
Avaliação dos aspectos neuropsicolinguísticos de um caso de holoprosencefalia
com mutação do gene SHH. Rev Soc Bras Fonoaudiol. 2007;12(2):146-50.
http://dx.doi.org/10.1590/S1516-80342007000200013
http://dx.doi.org/10.1590/S1516-80342007...
).
Currently, advances in health care, both in speech therapy as in Genetics, and multidisciplinary work have attracted increasing interest from both areas, as they evolve as complementary sciences, not only to better understanding of human communication and its disorders, but also for further characterization and development of specific programs for people with genetic syndromes(1010 Altmann EBC. Sequência de Pierre Roban: enfoque fonoaudiológico. In: Altmann EBC. Fissuras labiopalatinas. 4a ed. São Paulo: Pró-Fono; 2005. p. 495-512.).
In this context, the aim of this study was to identify possible speech-language disorders of children with IP, attended in the Dermatology and Genetics Services from the Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), seeking to characterize the role of speech therapy in the evaluation and management of this genetic condition.
METHODS
This consisted of an observational and cross-sectional study with prospective data collection. During the study period, we identified 14 patients with IP. The study included only children over the age 2 years due to the focus of clinical assessment and tools for the procedure. We excluded those patients who had comorbidities, such as neurological or progressive neuromuscular diseases, that could affect the results.
From the aforementioned patients, seven were excluded due to contact failure (n=3), different age limits for this study (n=3), or comorbidities (n= 1 patient with myasthenia gravis). Thus, the final sample was composed of seven female children with IP, whose parents agreed to participate in the study and signed a consent form. The study was approved by the Ethics Committee of UFCSPA, protocol number 1723/12.
All children were attended by the Dermatology and Genetic Services from UFCSPA and were evaluated by the speech therapy team, from October 2012 to May 2013.
The patients from this study had skin lesions (Figure 1), diagnosed following the criteria that divide the patients
into two groups according to the presence or absence of family
history(1111 Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger
syndrome). J Med Genet. 1993;30(1):53-9.
http://dx.doi.org/10.1136/jmg.30.1.53
http://dx.doi.org/10.1136/jmg.30.1.53...
). When
there is no IP family history, the presence of at least one major criterion
(erythema, vesicles, eosinophilia, typical hyperpigmentation, especially on the
trunk, following the Blaschko lines, disappearing in adolescence and alopecic
atrophic linear lesions) is required for diagnosis. The minor criteria (dental
abnormalities, alopecia, woolly hair, nail abnormalities and retinal disease),
when present, support the diagnosis of IP. When there is a positive family
history, the presence of any criterion (hyperpigmentation, scarring, linear
atrophic lesions with no hair, vertex alopecia, retinal disease, dental
anomalies, woolly hair and multiple miscarriages of male fetuses) strongly
favors the diagnosis of IP.
Dermatological findings among patients of the Incontinentia Pigmenti sample. The presence of lesions following Blaschko lines with whorls and bilateral striations, in vesicular (A) and pigmentary phases (B)
Initially, contact was made with the families of IP patients, with the invitation to perform clinical assessment. All patients underwent to the assessment procedures in the following areas: motor orofacial, swallowing, speech and voice. Hearing disorders with previous diagnosis were recorded and observed informally during evaluations. Hearing complaints by patients or family members were registered. For subjective evaluation of neuropsychomotor development delay, the criteria of the Caderno de Atenção Básica, Saúde da Criança: crescimento e desenvolvimento, Brasília- DF, 2012(1212 Ministério da Saúde (BR), Secretaria de Atenção à Saúde, Departamento de Atenção Básica. Saúde da criança: crescimento e desenvolvimento. Brasília, DF: Ministério da Saúde; 2012. (Cadernos de atenção básica, 33).) were considered.
To characterize aspects of independent judges, swallowing, speech and voice of
the individuals, a clinical assessment based on protocol MBGR-Exame
Miofuncional Orofacial(1313 Genaro KF, Bettetin-Felix G, Rehder MIBC, Marchesan IQ. Avaliação
miofuncional orofacial: protocolo MBGR. Rev CEFAC. 2009;11(2):237-55.
http://dx.doi.org/10.1590/S1516-18462009000200009
http://dx.doi.org/10.1590/S1516-18462009...
) was performed. The protocol includes extra and
intraoral morphological analyses, assessment of mobility, tone and orofacial
sensitivity, as well as breathing, chewing, swallowing and speaking.
For analysis of facial pattern, subjects were classified as Pattern I, II, III, long face or short face. The pattern I is characterized by facial normality and when a malocclusion occurs, this is only a dental malocclusion. Patterns II and III are characterized by positive and negative respectively sagittal step between maxilla and mandible. In long face and short face patterns, the discrepancy is vertical(1414 Capelloza Filho L. Diagnóstico em ortodontia. Maringá: Dental Press; 2004.). The analysis, as well as dental characteristics (type of malocclusion, type of teeth, tooth agenesis and non-physiological diastema), were carried out together with the dentists participants of the study(1414 Capelloza Filho L. Diagnóstico em ortodontia. Maringá: Dental Press; 2004.).
For analysis of food swallowing, solid (French bread), pasty (creamy yogurt) and liquid (water) consistencies were used. It was offered up the food to the patient, and, during that time, cervical auscultation was held and the following aspects were observed: closing lips, tongue posture, food containment, contraction of muscles involved, head movements, noise, coordination and residues after swallowing. In the analysis of speech, it was asked to the patient to count numbers (0-20), days of the week, months of the year, naming pictures involving various sounds and spontaneous speech. Motor coordination was seen in the patient speaks through rate and rhythm. When the child had abnormal speech and this was not clear in the instrument used, it was applied a more specific assessment by the instrument Avaliação Fonológica da Criança (AFC) Protocol(1515 Yavas M, Hermandorena, CLM, Lamprecht, RR. Avaliação fonológica da criança: reeducação e terapia. Porto Alegre: Artes Médicas; 1991.), according to age and the possibility of the individuals in the sample.
Finally, voice analysis was performed requesting the issuance of sustained vowel, where it was observed pitch, loudness and voice type, and maximum phonation time through the sustained vowel [a] and sustained consonants [s] and [z]. It is noteworthy that due to the sample heterogeneity in terms of age and socio-cultural characteristics, the evaluations were adapted to the patient profile.
The data analysis was organized in charts and the results expressed as mean and absolute frequency.
RESULTS
The seven patients from the sample were female, aged at assessment moment between 3 years and 7 months and 11 years and 1 month (mean 6.4 years). Only two children (28.6%) had history of preterm birth and in five cases (71.4%), they were born by cesarean section. From the seven patients, two (28.6%) had the mother also affected by IP syndrome.
At the time of the clinical dermatology evaluation, all patients had linear hyperchromic lesions involving mainly the lower limbs; one of them had warty lesions and four had stretch and hypopigmented marks. Other common findings were sparse hair with vertex alopecia (85.7%) and presence of melanocytic nevi (57%).
Among the main extra and intraoral morphological characteristics presented by the patients (Chart 1), we highlight the presence of non-physiological diastema and hard palate abnormalities, found in 85.7% of the sample, and dental agenesis in 71.4% (Figure 2).
Frontal intraoral image in occlusion showing diastema between lower central incisors and microdontia
As for altered functional findings, we could notice that five children of the sample (71.4%) showed tongue mobility change and four (57.1%) had inadequate chewing (Chart 2).
The main findings related to speech disorders observed in the evaluation were isolated phonetic changes (observed in 57.1% of the sample), being the most common disorder characterized by distortion of alveolar fricative [s]. There was also the presence of isolated phonological alterations and phonetic and phonological concomitant in 14.3% of cases (Chart 3).
None of the children had abnormal voice and swallowing, according to the used protocol. In addition, there was no evidence of hearing abnormality, according to the familiar complaint or through informal observation during the evaluation. All patients in the sample presented neurodevelopment within normal parameters.
DISCUSSION
The prognosis of female patients diagnosed with IP is generally good and depends
not only on skin manifestations, but also of extracutaneous features, which may
affect the quality of life(1616 Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Dental and
oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Invest.
2013;17(1):1-8. http://dx.doi.org/10.1007/s00784-012-0721-5
http://dx.doi.org/10.1007/s00784-012-072...
). The presence of other alterations, such as dental and/or oral
abnormalities, are included as minor IP diagnostic criteria(1717 Minić S, Trpinac D, Obradović M. Incontinentia pigmenti diagnostic
criteria update. Clin Genet. 2014;85(6):536-42.
http://dx.doi.org/10.1111/cge.12223
http://dx.doi.org/10.1111/cge.12223...
). From the patients with the
disease, 79.9% have one or more anomalies involving other organs besides the
skin. The presence of these anomalies is very important, because, unlike skin
changes, they will be present throughout the patient life(1818 Minić S, Novotny GEK, Trpinac D, Obradović M. Clinical features of
incontinentia pigmenti with emphasis on oral and dental abnormalities. Clin Oral
Invest. 2006;10(4):343-7.
http://dx.doi.org/10.1007/s00784-006-0066-z
http://dx.doi.org/10.1007/s00784-006-006...
). Among the minor IP
diagnostic criteria(1111 Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger
syndrome). J Med Genet. 1993;30(1):53-9.
http://dx.doi.org/10.1136/jmg.30.1.53
http://dx.doi.org/10.1136/jmg.30.1.53...
), we
find, in this sample, dental and/or oral alterations. The teeth abnormalities
were the most frequent features, including the presence of non-physiologic
diastema (85.7%) and tooth agenesis (71.4%), which is in agreement with the
findings described in the literature, where dental abnormalities are observed in
80% of the cases, being the most common non-skin IP alterations(66 Succi IB, Rosman FC, Oliveira EF. Você conhece esta síndrome? An
Bras Dermatol. 2011;86(3):601-10.
http://dx.doi.org/10.1590/S0365-05962011000300037
http://dx.doi.org/10.1590/S0365-05962011...
). The presence of diastema is
common in deciduous and mixed dentition in general population. These improve the
prognosis for spontaneous alignment of the permanent incisors. According to the
literature, 77% of children have dental arch with spacings in deciduous teeth,
which remain during the mixed dentition, especially among the upper permanent
central incisors(1919 Almeida RR, Garib DG, Almeida-Pedrin RR, Alemida MR, Junqueira MHZ.
Diastemas interincisivos centrais superiores: quando e como intervir? Rev Dent
Press Ortodon Ortop Facial. 2004;9(3):137-56.
http://dx.doi.org/10.1590/S1415-54192004000300014
http://dx.doi.org/10.1590/S1415-54192004...
). However,
the spacing observed in our sample is caused by abnormalities such as
micrognathia and abnormalities of dental shape and tooth agenesis, which are
part of the IP findings spectrum(1919 Almeida RR, Garib DG, Almeida-Pedrin RR, Alemida MR, Junqueira MHZ.
Diastemas interincisivos centrais superiores: quando e como intervir? Rev Dent
Press Ortodon Ortop Facial. 2004;9(3):137-56.
http://dx.doi.org/10.1590/S1415-54192004000300014
http://dx.doi.org/10.1590/S1415-54192004...
).
As for facial pattern of the patients, the most common were the Pattern I (n=3)
and II (n=3). The Pattern I is identified by facial normality, and when a
malocclusion occurs, this is only a dental malocclusion. The Pattern II is
characterized by a positive sagittal discrepancy between maxilla and mandible,
i.e., there is a maxillary excess, or a mandibular deficiency(2020 Reis SAB, Abrão J, Capelloza Filho L, Claro CAA. Análise facial
subjetiva. Rev Dent Press Ortodon Ortop Facial. 2006;11(5):159-72.
http://dx.doi.org/10.1590/S1415-54192006000500017
http://dx.doi.org/10.1590/S1415-54192006...
). These patients may present
tongue interposition during swallowing, tongue on the floor in the rest position
and changed chewing (cases 3 and 4)(2121 Pereira AC, Jorge TM, Ribeiro Júnior PD, Berretin-Felix G.
Características das funções orais de indivíduos com má oclusão Classe III e
diferentes faciais. Rev Dent Press Ortodon Ortop Facial. 2005;10(6):111-9.
http://dx.doi.org/10.1590/S1415-54192005000600013
http://dx.doi.org/10.1590/S1415-54192005...
). It was also found bite abnormality and facial
asymmetry in 57.1% of cases and high hard palate was verified in 71.4%. In the
literature, there are few specific reports of bite changes and facial asymmetry
in patients with IP. However, these features could be the result of frequent
dental anomalies, which potentially would bring consequences for the form and
function of the stomatognathic system(2222 Pereira CC, Felício CM. Os distúrbios miofuncionais orofacias na
literatura odontológica: revisão crítica. Rev Dent Press Ortodon Ortop Facial.
2005;10(4):134-42.
http://dx.doi.org/10.1590/S1415-54192005000400014
http://dx.doi.org/10.1590/S1415-54192005...
23 Varandas COM, Campos LG, Motta AR. Adesão ao tratamento
fonoaudiológico segundo a visão de ortodontistas e odontopediatras. Rev Soc Bras
Fonoaudiol. 2008;13(3):233-9.
http://dx.doi.org/10.1590/S1516-80342008000300006
http://dx.doi.org/10.1590/S1516-80342008...
-2424 Martinelli RLC, Fornaro EF, Oliveira CJM, Ferreira LMDB, Rehder
MIBC. Correlações entre alterações de fala, respiração oral, dentição e oclusão.
Rev CEFAC. 2011;13(1):17-26.
http://dx.doi.org/10.1590/S1516-18462010005000127
http://dx.doi.org/10.1590/S1516-18462010...
). Regarding
the increased frequency of high hard palate in our sample (71.4%), in a
systematic review conducted in the period between 1993-2012, with 1,286 patients
diagnosed with IP, where only 513 provided sufficient information to evaluate
possible dental and oral anomalies, aged from 1 year, it was observed that 54.4%
had some dental and/or oral anomaly, and high hard palate was one of the most
frequent oral abnormalities. Despite the relative small absolute number of
palate abnormalities, the number was 25 times higher than that found in general
population(1616 Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Dental and
oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Invest.
2013;17(1):1-8. http://dx.doi.org/10.1007/s00784-012-0721-5
http://dx.doi.org/10.1007/s00784-012-072...
),
indicating that high hard palate may also be a distinctive and useful finding
for the diagnosis, as a minor criterion of IP. One advantage is that it is
visible since birth, in contrast to dental anomalies that are detectable only
after 1 year(1616 Minić S, Trpinac D, Gabriel H, Gencik M, Obradović M. Dental and
oral anomalies in incontinentia pigmenti: a systematic review. Clin Oral Invest.
2013;17(1):1-8. http://dx.doi.org/10.1007/s00784-012-0721-5
http://dx.doi.org/10.1007/s00784-012-072...
).
In the evaluation of the stomatognathic system, there was a high prevalence of
tongue mobility change (n=6), and oral (n=2) or oronasal breathing (n=1).
Chewing was also changed, being predominantly one-sided (n=5). These
characteristics can be explained by the close relationship between bone/dental
and muscular conditions and functions of the stomatognathic system. The face is
an interdependent system and any change in one of its components will result in
a general disharmony(2323 Varandas COM, Campos LG, Motta AR. Adesão ao tratamento
fonoaudiológico segundo a visão de ortodontistas e odontopediatras. Rev Soc Bras
Fonoaudiol. 2008;13(3):233-9.
http://dx.doi.org/10.1590/S1516-80342008000300006
http://dx.doi.org/10.1590/S1516-80342008...
). In
mouth breathers, for example, the tongue tends to remain lower in the oral
cavity, which can cause changes in muscle and stomatognathic system functions,
including speech production(2424 Martinelli RLC, Fornaro EF, Oliveira CJM, Ferreira LMDB, Rehder
MIBC. Correlações entre alterações de fala, respiração oral, dentição e oclusão.
Rev CEFAC. 2011;13(1):17-26.
http://dx.doi.org/10.1590/S1516-18462010005000127
http://dx.doi.org/10.1590/S1516-18462010...
).
In the results analysis of the speech evaluation, it was observed that 85.7% of
the patients showed abnormalities and these may be characterized as phonetic or
phonological isolated, or even both alterations. Phonetically, 57.1% of patients
showed abnormalities, being the most common distortion in fricatives,
characterized by an adjustment or compensation used for the production of a
phoneme(2424 Martinelli RLC, Fornaro EF, Oliveira CJM, Ferreira LMDB, Rehder
MIBC. Correlações entre alterações de fala, respiração oral, dentição e oclusão.
Rev CEFAC. 2011;13(1):17-26.
http://dx.doi.org/10.1590/S1516-18462010005000127
http://dx.doi.org/10.1590/S1516-18462010...
). Changes
of phonological origin were less frequent (14.3%) and were also found in
children with concomitant phonetic and phonological alterations (14.3%). In the
literature, there is no report of speech disorders among patients with IP.
Despite the small sample size in our study, the values were higher than those
found in general population. In a study of schoolchildren in the city of Belo
Horizonte, among the 288 children assessed, 31.9% had some type of speech
disorder(2525 Rabelo ATV, Alves CRL, Goulart LMHF, Friche AAL, Lemos SMA, Campos
FR, et al. Alterações de fala em escolares na cidade de Belo Horizonte. J Soc
Bras Fonoaudiol. 2011;23(4):344-50.
http://dx.doi.org/10.1590/S2179-64912011000400009
http://dx.doi.org/10.1590/S2179-64912011...
). In
studies developed in Rio Grande do Sul, the prevalence have been ranged from
20.8 to 24.6%(2626 Rockenbach SP. Prevalência de distúrbios de fala em crianças da
primeira série de escolas municipais de Esteio [dissertação]. Porto Alegre:
Universidade Federal do Rio Grande do Sul, Faculdade de Medicina;
2005.,2727 Goulart BN, Chiari BM. Prevalência de desordens de fala em escolares
e fatores associados. Rev Saúde Pública. 2007;41(5):726-31.). The prevalence of phonetic
deviation was described as being 18% and phonological disorders were 9.7%. In
addition, 4.2% of children had both phonetic and phonological changes(2525 Rabelo ATV, Alves CRL, Goulart LMHF, Friche AAL, Lemos SMA, Campos
FR, et al. Alterações de fala em escolares na cidade de Belo Horizonte. J Soc
Bras Fonoaudiol. 2011;23(4):344-50.
http://dx.doi.org/10.1590/S2179-64912011000400009
http://dx.doi.org/10.1590/S2179-64912011...
).
In general, studies report an association between the presence of phonetic
deviation and motor orofacial changes(2525 Rabelo ATV, Alves CRL, Goulart LMHF, Friche AAL, Lemos SMA, Campos
FR, et al. Alterações de fala em escolares na cidade de Belo Horizonte. J Soc
Bras Fonoaudiol. 2011;23(4):344-50.
http://dx.doi.org/10.1590/S2179-64912011000400009
http://dx.doi.org/10.1590/S2179-64912011...
,2828 Monteiro VR, Brescovici SM, Delgado SE. A ocorrência de ceceio em
crianças de oito a 11 anos em escolas municipais. Rev Soc Bras Fonoaudiol.
2009;14(2):213-8.). Others have
shown that the production of /s/, phoneme that showed changes in our sample,
requires precise operating conditions and forms of orofacial structures because
it has an articulation point more stable and therefore does not allow multiple
articulatory trajectories to achieve the same socket. When these conditions are
changed, the sound is produced incorrectly and may be distorted(2929 Chen H, Stevens KN. An acoustical study of the fricative /s/ in the
speech of individuals with dysarthria. J Speech Lang Hear Res.
2001;44(6):1300-14.
http://dx.doi.org/10.1044/1092-4388(2001/101)
http://dx.doi.org/10.1044/1092-4388(2001...
,3030 Tomé MC, Farias SR, Araújo SM, Schimitt BE. Ceceio interdental e
alterações oclusais em crianças de 03 a 06 anos. Pró Fono.
2004;16(1):19-30.). Other findings observed in the sample, which may also
contribute to the phonetic changes described are the anterior open bite and the
increased overbite. The open bite may lead to adjustments in tongue positioning,
inserting it, protracting it or raising it(2828 Monteiro VR, Brescovici SM, Delgado SE. A ocorrência de ceceio em
crianças de oito a 11 anos em escolas municipais. Rev Soc Bras Fonoaudiol.
2009;14(2):213-8.), as well as the overbite, which reduces the intraoral
space due to the decrease of the vertical dimension, which may hinder the
necessary movements of the tongue in speech production(2424 Martinelli RLC, Fornaro EF, Oliveira CJM, Ferreira LMDB, Rehder
MIBC. Correlações entre alterações de fala, respiração oral, dentição e oclusão.
Rev CEFAC. 2011;13(1):17-26.
http://dx.doi.org/10.1590/S1516-18462010005000127
http://dx.doi.org/10.1590/S1516-18462010...
).
Central nervous system abnormalities constitute the most serious complications of
IP(22 Kataguiri P, Martins FCR, Yamanda V, Salomão G, Ribeiro R, Rehder
JRCL. Manifestações clínicas e desafios diagnósticos na síndrome de
incontinentia pigmenti. Rev Bras Oftalmol. 2010;69(6):395-9.
http://dx.doi.org/10.1590/S0034-72802010000600009
http://dx.doi.org/10.1590/S0034-72802010...
,33 Chang JT, Chiu PC, Chen YY, Wang HP, Hsieh KS. Multiple clinical
manifestations and diagnostic challenges of incontinentia pigmenti--12 years’
experience in 1 medical center. J Chin Med Assoc. 2008;71(9):455-60.
http://dx.doi.org/10.1016/S1726-4901(08)70148-5
http://dx.doi.org/10.1016/S1726-4901(08)...
). In our study, none of the patients had
abnormal neurological development. Perhaps the small sample size, the criteria
adopted for patient selection or their heterogeneity may explain this
finding.
CONCLUSION
It could be perceived that speech-language disorders are common among IP patients and they are mainly related to the stomatognathic system structures and speech. It is evident that these abnormalities, especially the phonetic ones, are related to problems of position and mobility of tongue, lips, cheeks and jaw, of dental arch abnormalities and of shape of the teeth. Speech disorders may be considered secondary to the syndrome and may affect the communication development and interaction of these children. In this context, we stress the importance of a multidisciplinary approach, with the inclusion of the speech therapist to the team, for better identification, diagnosis, treatment and monitoring of IP cases, thus enabling an efficient communication and a better quality of life for these patients.
ACKNOWLEDGEMENTS
We would like to thank the patients and their families for their participation in this study.
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» http://dx.doi.org/10.1590/S1516-80342008000300006 -
24Martinelli RLC, Fornaro EF, Oliveira CJM, Ferreira LMDB, Rehder MIBC. Correlações entre alterações de fala, respiração oral, dentição e oclusão. Rev CEFAC. 2011;13(1):17-26. http://dx.doi.org/10.1590/S1516-18462010005000127
» http://dx.doi.org/10.1590/S1516-18462010005000127 -
25Rabelo ATV, Alves CRL, Goulart LMHF, Friche AAL, Lemos SMA, Campos FR, et al. Alterações de fala em escolares na cidade de Belo Horizonte. J Soc Bras Fonoaudiol. 2011;23(4):344-50. http://dx.doi.org/10.1590/S2179-64912011000400009
» http://dx.doi.org/10.1590/S2179-64912011000400009 -
26Rockenbach SP. Prevalência de distúrbios de fala em crianças da primeira série de escolas municipais de Esteio [dissertação]. Porto Alegre: Universidade Federal do Rio Grande do Sul, Faculdade de Medicina; 2005.
-
27Goulart BN, Chiari BM. Prevalência de desordens de fala em escolares e fatores associados. Rev Saúde Pública. 2007;41(5):726-31.
-
28Monteiro VR, Brescovici SM, Delgado SE. A ocorrência de ceceio em crianças de oito a 11 anos em escolas municipais. Rev Soc Bras Fonoaudiol. 2009;14(2):213-8.
-
29Chen H, Stevens KN. An acoustical study of the fricative /s/ in the speech of individuals with dysarthria. J Speech Lang Hear Res. 2001;44(6):1300-14. http://dx.doi.org/10.1044/1092-4388(2001/101)
» http://dx.doi.org/10.1044/1092-4388(2001/101) -
30Tomé MC, Farias SR, Araújo SM, Schimitt BE. Ceceio interdental e alterações oclusais em crianças de 03 a 06 anos. Pró Fono. 2004;16(1):19-30.
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The study was carried out in the Departments of Speech Language Pathology, Dermatology and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre – UFCSPA – Porto Alegre (RS), Brazil.
Publication Dates
-
Publication in this collection
Mar 2015
History
-
Received
17 Oct 2014 -
Accepted
9 Mar 2015