Добавил:
Sekretar
kiopkiopkiop18@yandex.ru
t.me/Prokururor I Вовсе не секретарь, но почту проверяю
Опубликованный материал нарушает ваши авторские права? Сообщите нам.
Вуз:
Предмет:
Файл:Ординатура / Хирургия / Библиотека им академика М.И. Перельмана / Книга_4455_Библиотеки_им_академика_М_И_Перельмана
.pdf
442 Disorders of the Auditory System
https://t.me/medicina_free
The exact time course and development of polymicrogyria insult is not
known. Given that normal gyration of
a smooth fetal brain occurs between 21
and 28 weeks gestation (Squier & Jansen,
2014), researchers speculate that the time
course of insult can be inferred from the
layering patterns of the polymicrogyria.
Unlayered polymicrogyria is thought to
be an “early” insult that occurs at 18 to
24 weeks gestation. This is characterized
by a microscopic band that encompasses,
but does not fuse, adjacent microgyria
surfaces. This also results in clefts being
formed between small microgyria (Barth,
1987; Squier & Jansen, 2014). Layered
polymicrogyria occurs later in development, after 24 weeks gestation, and is
characterized by a microscopic layer that
fuses the small microgyria together and
appears in conjunction with a “festooned”
cortical surface (Judkins, Martinez, Ferreira, Dobyns, & Golden, 2011; Squier &
Jansen, 2014).
Agenesis of the Corpus Callosum
A discussion of malformations of the central auditory nervous system should not
occur without mention of agenesis of the
corpus callosum. Agenesis of the corpus
callosum reportedly occurs in 1 in 4,000
live births (Paul et al., 2007). It is a rare
congenital condition that can be inherited
as an X-linked or autosomal recessive trait
or as the result of an intrauterine infection
or injury that occurs at or around the 12th
gestational week (National Organization for Rare Disorders, 2007; Palmer &
Mowat, 2014). This disorder is characterized by partial or complete absence of the
corpus callosum. The corpus callosum is
responsible for connecting the left and
right cerebral hemispheres and transferring information from one side of the
brain to the other. Individuals with callosal agenesis do not show the same level of
disconnection symptoms and test findings
as do split-brain patients, who typically
show severe left ear deficits on dichotic
speech tests and bilateral deficits on pattern sequencing tasks if a verbal response
is required. The degree of neurodevelopmental problems that result from corpus
callosum agenesis can be highly variable
and depends on the amount of collateral
involvement of other parts of the brain. In
some cases, the developmental delays can
result in marked sensory, cognitive, and/
or motor problems. However, in cases
where only the corpus callosum is disconnected or partially disconnected and
there is no involvement of other parts of
the brain, the neurologic and related deficits can be minimal. In these cases, the
symptoms can be so subtle that they may
go unnoticed and central auditory testing
(if completed) may not yield the laterality findings for dichotic tasks or the bilateral pattern processing deficits mentioned
previously that are commonly observed
in split-brain patients (Paul et al., 2007;
Bryden & Zurif, 1970; Musiek & Baran,
2020; Sotiriadis & Makrydimas, 2012).
These cases speak to the amazing ability
of the brain to reorganize. Even in cases
of severe congenital malformations, such
as in the case of corpus callosum agenesis, the brain has the ability to exploit its
innate plasticity abilities.
New knowledge regarding the genetic basis for various congenital brain
malformations is rapidly advancing.
While there is limited information regarding the specific impact of such malformations on “central auditory function,” there
are likely significant implications given
the sites of involvement for many of these
malformations. As new knowledge is
gained regarding congenital malforma-
9. Hereditary and Congenital Hearing Loss 443
https://t.me/medicina_free
tions and their genetic basis, hopefully
we will observe significant advances in
our understanding of the impact of such
disorders on auditory function.
genetic evaluation
and
fo
Genetic evaluation and counseling are
critical components in the identification
and management of individuals with
hearing loss. According to the American
College of Medical Genetics and Genomics (Alford et al., 2014), every individual
identified with congenital hearing loss
should undergo a genetic evaluation. It
is important to delineate the difference
between a genetic evaluation and genetic
counseling, as they each have separate
functions. A genetic evaluation is a medical evaluation performed by a trained
clinical geneticist, which may or may not
result in a diagnosis of a genetic condition.
The diagnosis would depend on the outcome of the evaluation conducted. Only a
geneticist is qualified to make the clinical
diagnosis of a genetic disorder.
The genetic counselor is a professional
with specialized training in counseling
individuals about genetic disorders, but
these professionals do not make genetic
diagnoses. The genetic counselor, like the
geneticist, has many key roles in patient
care. These professionals provide education, guide decision making, provide support to the patient and/or the family, and
make appropriate referrals when necessary. They are also often involved in counseling families with respect to the probability that a genetic trait was inherited,
as well as what the probability is that the
individual may pass an inherited genetic
counseling
R heaRing loss
trait to any offspring (Alford et al., 2014;
Ciarleglio, Bennett, Williamson, Mandell,
& Marks, 2003).
Genetic Evaluation
The genetic evaluation requires a multitiered approach that typically includes
obtaining the patient’s history, completing a comprehensive diagnostic evaluation, counseling the patient (or his or her
parents or legal guardians if the patient
is a minor), and recommending interventions and/or referrals to other specialists
when necessary. The initial genetic evaluation begins with a detailed history that
has a special focus on the occurrence of
genetic conditions in the patient’s family, the patient’s risk factors for a genetic
condition, and a comprehensive physical examination (Alford et al., 2014). This
is particularly important because early
detection can decrease the chance of
morbidities and mortalities that may be
associated with some genetic conditions
(Cooke-Hubley & Maddalena, 2011).
A detailed medical history is the
foundation for all genetic evaluations. The
evaluation should specifically include a
review of the patient’s pedigree to determine the likelihood of an inherited syndromic or nonsyndromic condition, a
consideration of the patient’s ethnicity
and country of origin, and a review of
any audiometric evidence of hearing loss,
as well as of any evidence or documentation of vestibular involvement and/or
other associated syndromic features. Also,
medical evaluation for comorbid conditions such as cardiac, vision, and renal
impairments should be pursued (Alford
et al., 2014). The pedigree is a component
of the evaluation that deserves special
attention. The pedigree can be defined as
444 Disorders of the Auditory System
https://t.me/medicina_free
a chart or diagram which demonstrates
the occurrence of the particular trait of
interest (i.e., hearing loss). The geneticist
or the genetic counselor will draw a family pedigree that covers three or more generations of the family, showing relatives
with hearing loss along the lineage. In
addition, they will also note any history
or other significant findings that may suggest disorders, traits, or conditions that
are associated with a syndromic disorder (e.g., the presence of heart conditions
along with hearing loss, which may suggest CHARGE syndrome). The pedigree
is carefully examined to find evidence
that suggests the presence of an inherited
trait and the probable inheritance pattern
if a family pedigree is consistent with a
genetic etiology.
In addition to careful analysis of the
patient’s pedigree, the geneticist will evaluate the patient in order to determine if
the hearing loss may be associated with a
specific syndrome. This is accomplished
through either physical examination and/
or a detailed history of the various systems
(visual, endocrine, cardiac, renal). Patients
are examined for visual involvement such
as retinitis pigmentosa, which is associated with Usher syndrome. Additionally,
the patient and family members may be
examined for dysmorphic features as well
as anomalies, such as preauricular pits or
aural atresia. Patients are also examined
for signs and symptoms that may include
the endocrine, cardiac, and renal systems.
Finally, careful attention should be paid
to other integumentary changes (e.g.,
abnormal pigmentation, white forelocks,
etc.), as such findings during the physical examination of the patient could point
to certain syndromes or diseases (e.g., a
white forelock in Waardenburg syndrome
or preauricular pits in branchiootorenal
syndrome).
There are several important elements
that should be taken into consideration
with respect to the physical examination
of the patient. Patients should undergo
audiologic and neurologic examinations.
In addition, they should have an otologic
examination with emphasis on the evaluation of the airway and documentation of
any dysmorphic features. Additional risk
factors for hearing loss should be considered, including meningitis, hypoxia, ototoxic exposure, prenatal alcohol exposure,
extracorporeal membrane oxygenation
(use of an artificial lung machine), and
intrauterine infections (cytomegalovirus,
rubella, etc.). Such findings in the medical history and/or evaluation may help to
establish a nongenetic basis for the hearing loss (e.g., meningitis or cytomegalovirus infection, injury, or prenatal maternal
infection).
As outlined in the American College
of Medical Genetics and Genomics Guideline for the Clinical Evaluation and Etiologic Diagnosis of Hearing Loss (Alford
et al., 2014), the following triage/testing
paradigm is recommended when evaluating a patient who is at risk for a genetic
hearing loss (the following is a brief summary of the information presented in this
guideline and additional details for each
of the following steps can, and should, be
accessed from the original publication):
I. All newborns with confirmed
hearing loss should undergo a
comprehensive evaluation including
the following
➤ Medical and birth history
➤ A three-generation pedigree
and family history analysis and
evaluation
➤ Physical examination focusing on
dysmorphic and other physical
findings
9. Hereditary and Congenital Hearing Loss 445
https://t.me/medicina_free
II. If syndromic hearing loss is
suspected
➤ Pretest genetic counseling, and
with informed consent, genetic
testing
➤ Ordering of appropriate studies
to determine if other organs are
involved
➤ Appropriate near-term and
far-term screenings and management, including referrals to
specialists as indicated
III. If physical findings of a syndromic
hearing loss are lacking and birth
and medical records do not suggest
an environmental or nongenetic
cause of the hearing loss, a tiered
testing approach is indicated
➤ Pretest genetic counseling, and
with informed consent, genetic
testing
➤ Temporal bone imaging
➤ CMV testing
IV. Referral to multidisciplinary center,
if available, is recommended for
optimal ongoing management of the
patient
V. Regardless of genetic test results,
findings of the evaluation(s) should
be communicated through genetic
counseling
The guideline additionally indicates that
the evaluation of children and young
adults with hearing loss should follow
a similar approach, and that evaluation
of older adults with hearing loss be customized based on the age of onset and
the characteristics of the hearing loss (see
Alford et al., 2014).
Whenever there is the possibility of a
genetic etiology of hearing loss, a clinical
genetic evaluation is beneficial to determine the cause of hearing loss regardless
of the age of the patient (Alford et al.,
2014). The geneticist will determine if the
hearing loss is genetic or whether it is a
result of other causes like infections, head
trauma, and so forth. If the hearing loss
is found to be genetic, the geneticist will
also be able to identify whether it is due
to a syndromic or nonsyndromic etiology.
Once that is determined, then the mode
of inheritance (autosomal dominant, autosomal recessive, X-linked, mitochondrial,
or multifactorial) is studied. Depending
on the findings, the patient’s spouse, parents, and siblings are frequently encouraged to have an audiologic evaluation
and may also be asked to undergo genetic
testing. The geneticist will often work in
conjunction with the genetic counselor to
provide a multitiered approach to evaluation and management of these patients.
The current standard of care in genetic
testing for hearing loss now also includes
multigene hearing loss panel testing.
Multigene panel testing has been a significant advance in genetic testing due to
its ability to simultaneously test multiple
genes rather than routinely using singlegene tests, which are typically ordered
and completed sequentially and can be
expensive and delay identification of the
basis for a hearing loss (Wallace & Bean,
2018). There are two types of multigene
panels available: (1) off-the-shelf panels
and (2) custom-designed panels. Off-theshelf panels are designed to test for genes
that are found to be commonly associated
with broad phenotypes (e.g., ataxia, hearing loss, etc.). Custom-designed panels
allow the clinician to select specific genes
for analysis. Of utmost importance is for
the professional who is not a geneticist to
refer to a genetics specialist who will have
a comprehensive knowledge of what tests
are appropriate, efficient, and available to
aid in the diagnostic process. For additional
information on gene sequencing options
446 Disorders of the Auditory System
https://t.me/medicina_free
and evaluation strategies, the reader is
referred to Shearer et al. (2017).
Genetic Counseling
Genetic counselors are health professionals with degrees in medical genetics
and counseling. As outlined by the 2006
National Society of Genetic Counselors’
Task Force (Resta et al., 2006), these professionals are trained to assist families in
understanding the “medical, psychological, and familial implications of genetic
contributions of a disease.” Genetic counseling is an important resource for patients
and their families throughout the genetic
evaluation process. Once reserved for
high-risk patients, genetic counseling has
become a routine part of many aspects of
medicine. The role of genetic counselors
is to assist with interpretation of family
medical histories and assess the likelihood
of disease occurrence (or recurrence). In
addition, they provide the framework for
education regarding inheritance, testing,
prevention, and management of genetic
disorders (Arnos, Welch, & Pandya, 2013;
Resta et al., 2006).
At the outset, it must be stressed that
genetic counseling should be “nondirective.” In other words, it is recommended
that it be supportive and informative, but
it should not prescribe the steps that the
individual and/or the family should take.
The purpose of genetic evaluation and
counseling is to answer the various questions that may arise about how genetic
factors could cause hearing loss and other
conditions (e.g., in the case of syndromic
hearing losses) and the risk of the hearing
loss (and other conditions, if they exist)
to worsen or progress with time. It is also
to ensure that the family understands the
results of the genetic evaluation. A com-
mon question addressed during genetic
counseling is, “What is the probability
that the genetic condition could be passed
down to offspring if a couple mates?”
After completion of the genetic evaluation, a meeting is held with the proband and other family members (at the
proband’s request) to explain the findings. The findings may reveal whether
the hearing loss is genetic in nature and, if
so, its mode of inheritance. If a syndrome
is detected, then the physical and medical features are described. In other cases,
the cause of the hearing loss may not be
found; however, the possibility exists that
it may still be genetic.
The most common genetic cause in
such a case is an autosomal recessive etiology where each normally hearing parent has an unknown mutation in one of
the two alleles of a gene, and the affected
person has inherited these two mutations,
which results in hearing loss. The probability of this occurring is 25% with each
pregnancy. The chance for the affected
person to have children with hearing loss
is small (i.e., unless they marry someone
with the same recessive gene for hearing
loss or who has a dominant form of hearing loss).
Another possible pattern that may
be observed is that the person with hearing loss may have a dominant gene that
is new to him or her (or modified by a
new mutation). In this case, the chance
that this person will have a child with the
same hearing loss is 50%. If the hearing
loss is in a male, then it is possible that
this hearing loss is due to a recessive
X-linked mode of inheritance. In this case,
the son would have inherited this gene
from his mother. If the cause of hearing
loss remains unknown, an estimated risk
is calculated based on studies involving
families with similar histories. Therefore,
9. Hereditary and Congenital Hearing Loss 447
https://t.me/medicina_free
if a couple presents with normal hearing
and has one child with profound deafness, then their chance of having another
deaf child is 10%. If both parents are deaf
(and have unknown genetic histories/
information), then their chance of having
a deaf first child is 10%.
The previously outlined analysis of
inheritance patterns are only a few examples of the counseling issues that genetic
counselors encounter and about which
they educate patients and their families on
a daily basis. The information and support
they provide to patients with hearing loss
and their families are critical to the care
and well-being of the patient. As a result,
they play a critical role in the overall management of patients with hearing loss,
making them an integral part of the health
care team. (For additional information
on genetic counseling, see Alford et al.,
2014, and Arnos et al., 2013.)
summaRy
Genetics, heredity, and congenital hearing loss are complex topics that are difficult to overview. This chapter has provided the reader with an overview of the
more common genetic manifestations of
hearing loss, however, an exhaustive discussion of all the genes associated with
hearing loss are beyond the scope of this
chapter. Resources for additional information have been provided that we hope
will the reader will find useful. While
significant strides have been made in the
identification of deafness/hearing lossrelated genes, it is inevitable that there
are many more genes to be uncovered
and much more knowledge to be gained
regarding the role these genes play in
hearing. The future is likely to hold many
exciting new revelations and discoveries
in not only identifying additional genes
associated with hearing loss, but also in
the development of effective gene therapies as well.
Genetic evaluation and counseling have become an important part of
the identification, treatment, and management of individuals with hearing
impairment. As genetic testing becomes
even more highly integrated into audiologic and otologic practices, so will the
need for the support of geneticists and
genetic counselors. The role of genetics
in the identification, treatment, and management of hearing loss is one that has
become highly important to patients and
their families, as well as to audiologists
and other health care professionals.
Acknowledgments. The authors grate-
fully acknowledge the contributions of
Kathleen Arnos, PhD, Retired Professor of
Biology, Department of Science, Technology, and Mathematics, Gallaudet University, Washington, D.C. and Abbas Younes,
MD, Otolaryngologist, for their contributions to this chapter.
RefeRences
Adam, M. P., Ardinger, H. H., Pagon, R. A.,
Wallace, S. E., Bean, L. J. H., Stephens, K.,
& Amemiya, A. (Eds.). (1993–2019). Gene-
Reviews
Washington. Retrieved from https://www
.ncbi.nlm.nih.gov/books/NBK1116/
Agochukwu, N. B., Solomon, B. D., & Muenke,
M. (2014). Hearing loss in syndromic craniosynostoses: Otologic manifestations and
clinical findings. International Journal of Pedi-
atric Otorhinolaryngology, 78(12), 2037–2047.
Alford, R. L., Arnos, K. S., Fox, M., Lin, J. W.,
Palmer, C. G., Pandya, A., . . . Yoshinaga-
®
[Internet]. Seattle: University of
448 Disorders of the Auditory System
https://t.me/medicina_free
Itano, C. (2014). American College of Medical Genetics and Genomics guideline for
the clinical evaluation and etiologic diagnosis of hearing loss. Genetics in Medicine
16(4), 347–355.
Arnos, K. S., Welch, K. O., & Pandya, A. (2013).
Epidemiology, etiology, genetic mechanisms, and genetic counseling. In H. V. Toriello & S. D. Smith (Eds.), Hereditary hearing
loss and its syndromes (3rd ed., pp. 4–12).
New York, NY: Oxford University Press.
Baker, S., Booth, C., Fillman, C., Shapiro, M.,
Blair, M. P., Hyland, J. C., & Ala-Kokko, L.
(2011). A loss of function mutation in the
COL9A2 gene causes autosomal recessive
Stickler syndrome. American Journal of Med-
ical Genetics, 155A(7), 1668–1672.
Bamiou, D. E., Free, S. L., Sisodiya, S. M.,
Chong, W. K., Musiek, F., Williamson, K.
A., & Luxon, L. M. (2007). Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance
imaging abnormalities in children with
congenital aniridia due to PAX6 mutations.
Archives of Pediatric and Adolescent Medicine,
161(5), 463–469.
Bamiou, D. E., Spraggs, P. R., Gibberd, F. B.,
Sidey, M. C., & Luxon, L. M. (2003). Hearing
loss in adult Refsum’s disease. Clinical Oto-
laryngology and Allied Sciences, 28(3), 227–230.
Barkovich, A. J., Guerrini, R., Kuzniecky, R. I.,
Jackson, G. D., & Dobyns, W. B. (2012). A developmental and genetic classification for
malformations of cortical development.
Update 2012. Brain, 135(5), 1348–1369.
Barkovich, A. J., Kuzniecky, R. I., Jackson, G. D.,
Guerrini, R., & Dobyns, W. B. (2005). A developmental and genetic classification for
malformations of cortical development.
Neurology, 65(12), 1873–1887.
Barth, P. G. (1987). Disorders of neuronal
migration. Canadian Journal of Neurologic
Sciences, 14(1), 1–16.
Bertrán, M., Tagle, F. P., & Irarrázaval, M.
(2018). Psychiatric manifestations of 22q11.2
deletion syndrome: A literature review.
Neurologia, 33(2), 121–128.
Boscariol, M., Garcia, V. L., Guimarães, C. A.,
Hage, S. R., Montenegro, M. A., Cendes, F.,
& Guerreiro, M. M. (2009). Auditory processing disorders in twins with perisylvian
polymicrogyria. Arquivos de Neuro-Psiquia-
tria, 67(2B), 499–501.
Boscariol, M., Garcia, V. L., Guimarães, C. A.,
Montenegro, M. A., Hage, S. R., Cendes, F.,
& Guerreiro, M. M. (2010). Auditory processing disorder in perisylvian syndrome.
Brain Development, 32(4), 299–304.
Brotto, D., Avato, I., Lovo, E., Muraro, E., Bovo,
R., Trevisi, P., . . . Manara, R. (2019). Epidemiologic, imaging, audiologic, clinical,
surgical, and prognostic issues in common
cavity deformity: A narrative review. Oto-
laryngology-Head and Neck Surgery, 145(1),
72–78.
Bryden, M. P., & Zurif, E. B. (1970). Dichotic
listening performance in a case of agenesis
of the corpus callosum. Neuropsychologia, 8,
371–377.
Cantonas, L. M., Tomescu, M. I., Biria, M., Jan,
R. K., Schneider, M., Eliez, S., . . . Michel, C.
M. (2019). Abnormal development of early
auditory processing in 22q11.2 deletion
syndrome. Translational Psychiatry, 9(1), 138.
https://doi.org/10.1038/s41398-019-0473-y
Carvalho, G. M., Ramos, P. Z., Castilho, A. M.,
Guimarães, A. C., & Sartorato, E. L. (2016).
Molecular study of patients with auditory
neuropathy. Molecular Medicine Reports,
14(1), 481–490.
Centers for Disease Control and Prevention.
(Last reviewed 2018, November 1). Birth
defects. Facts about microcephaly Retrieved
from https://www.cdc.gov/ncbddd/birth
defects/microcephaly.html
Chang, E. H., Menezes, M., Meyer, N. C.,
Cucci, R. A., Vervoort, V. S., Schwartz, C.
E., & Smith, R. J. (2004). Branchio-oto-renal
syndrome: The mutation spectrum in EYA1
and its phenotypic consequences. Human
Mutation, 23(6), 582–589.
Chen, J., Chen, J., Zhu, Y., Liang, C., & Zhao,
H. B. (2014). Deafness induced by connexin
26 (GJB2) deficiency is not determined by
endocochlear potential (EP) reduction but
is associated with cochlear developmental disorders. Biochemical and Biophysical
Research, Communications, 44(1), 28–32.
9. Hereditary and Congenital Hearing Loss 449
https://t.me/medicina_free
Ciarleglio, L. J., Bennett, R. L., Williamson, J.,
Mandell, J. B., & Marks, J. H. (2003). Genetic
counseling throughout the life cycle. Journal
of Clinical Investigation, 112(9), 1280–1286.
Cooke-Hubley, S., & Maddalena, V. (2011).
Access to genetic testing and genetic counseling in vulnerable populations: The d/
Deaf and hard of hearing population. Jour-
nal of Community Genetics, 2(3), 117–125.
Coupland, S. G., & Sarnat, H. B. (1990). Visual
and auditory evoked potential correlates of
cerebral malformations. Brain & Develop-
ment, 12(5), 466–472.
Das, P., Bandyopadhyay, M., Ghugare, B. W.,
Ghate, J., & Singh, R. (2010). Auditory evaluation of the microcephalic children with
brain stem evoked response audiometry
(BERA). Indian Journal of Physiology and
Pharmacology, 54(4), 376–380.
Evans, D. G. (Updated 2018, March 15). Neu-
rofibromatosis 2. In M. P. Adam, H. H.
Ardinger, R. A. Pagon, S. E. Wallace, L. J.
H. Bean, K. Stephens, & A. Amemiya (Eds.),
GeneReviews
®
[Internet]. Seattle: University
of Washington. Retrieved from https://
www.ncbi.nlm.nih.gov/books/NBK1201/
Fox, J. W., & Walsh, C. A. (1999). Periventricu-
lar heterotopia and the genetics of neuronal
migration in the cerebral cortex. American
Journal of Human Genetics, 65(1), 19–24.
Fraser, F. C., Sproule, J. R., Halal, F., & Optiz,
J. M. (1980). Frequency of the branchiooto-renal (BOR) syndrome in children with
profound hearing loss. American Journal of
Medical Genetics, 7(3), 341–349.
Galaburda, A. M., Sherman, G. F., Rosen, G.
D., Aboitiz, F., & Geschwind, N. (1985).
Developmental dyslexia: Four consecutive
patients with cortical anomalies. Annals of
Neurology, 18(2), 222–233.
Gao, L., Tang, S. X., Yi, J. J., McDonald-McGinn,
D. M., Zackai, E. H., Emanuel, B. S., . . . Gur,
R. E. (2018). Musical auditory processing,
cognition, and psychopathology in 22q11.2
deletion syndrome. American Journal of
Medical Genetics, Part B. Neuropsychiatric
Genetics, 177(8), 765–773.
Gareth, D., & Evans, R. (2009). Neurofibroma-
tosis type 2 (NF2): A clinical and molecular
review. Orphanet Journal of Rare Diseases, 4,
16–32.
Georgakopoulos, B., & Zafar Gondal, A.
(Updated 2019, July 22). Embryology, ear
congenital malformations. StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing. Retrieved from https://www-ncbinlm-nih-gov.ezproxy.uky.edu/books/
NBK545256/
Griffith, A. J., & Friedman, T. B. (2017). Heredi-
tary hearing loss. In P. A. Wackym & J. B.
Snow, Jr. (Eds.), Ballenger’s otorhinolaryngol-
ogy: Head and neck surgery (18th ed., pp. 329–
345). Shelton, CT: People’s Medical.
Hacihamdiog˘lu, B., Hacihamdiog˘lu, D., &
Delil, K. (2015). 22q11 deletion syndrome:
Current perspective. Application of Clinical
Genetics, 8, 123–132.
Hageman, M. J. (1977). Audiometric findings
in 34 patients with Waardenburg’s syndrome. Journal of Laryngology and Otology,
91(7), 575–584.
Hartshorne, T. S., Hefner, M. A., Davenport, S.
L. H., & Thelin, J. W. (Eds.). (2011). CHARGE
syndrome. San Diego, CA: Plural Publishing.
Hartzell, L. D., & Chinnadurai, S. (2018).
Microtia and related facial anomalies. Clini-
cal Perinatology, 45(4), 679–697.
Hood, L. J., & Keats, B. J. (2011). Genetics of
childhood hearing loss. In R. Seewald & A.
M. Tharpe (Eds.), Comprehensive handbook of
pediatric audiology (pp. 113–123). San Diego,
CA: Plural Publishing.
Izumi, K., Konczal, L. L., Mitchell, A. L., &
Jones, M. C. (2012). Underlying genetic
diagnosis of Pierre Robin sequence: Retrospective chart review at two children’s hospitals and a systematic literature review.
Journal of Pediatrics, 160(4), 645–650 e642.
https://doi.org/10.1016/j.jpeds.2011.09.021
Jackler, R. K. (1998). Congenital malformations
of the inner ear. In C. W. Cummings, J. M.
Fredrickson, L. A. Harker, C. J. Krause, M.
A. Richardson, & D. E. Schuller (Eds.), Oto-
laryngology-Head and Neck Surgery (3rd ed.,
pp. 418–438). New York, NY: Mosby.
Jackler, R. K., Luxford, W. M., & House, W.
F. (1987). Congenital malformations of the
inner ear: A classification based on embryo-
450 Disorders of the Auditory System
https://t.me/medicina_free
genesis. Laryngoscope, 97(3 Pt. 2, Suppl. 40),
2–14.
Jais, J. P., Knebelmann, B., Giatras, I., De Mar-
chi, M., Rizzoni, G., Renieri, A., . . . Gubler,
M. C. (2000). X-linked Alport syndrome:
Natural history in 195 families and genotype-phenotype correlations in males.
Journal of the American Society of Nephrology,
11(4), 649–657.
Jones, S. M., & Jones, T. A. (2011). Genetics,
embryology, and development of the auditory
and vestibular systems. San Diego, CA: Plu-
ral Publishing.
Joshi, V. M., Navlekar, S. K., Kishore, G. R.,
Reddy, K. J., & Kumar, E. C. (2012). CT and
MR imaging of the inner ear and brain in
children with congenital sensorineural hearing loss. RadioGraphics, 32(3), 683–698.
Judkins, A. R., Martinez, D., Ferreira, P.,
Dobyns, W. B., & Golden, J. A. (2011). Polymicrogyria includes fusion of the molecular
layer and decreased neuronal populations
but normal cortical laminar organization.
Journal of Neuropathology and Experimental
Neurology, 70(6), 438–443.
Kashtan, C. E. (Updated 2019, February 21).
Alport syndrome. In M. P. Adam, H. H.
Ardinger, R. A. Pagon, S. E. Wallace, L. J.
H. Bean, K. Stephens, & A. Amemiya (Eds.),
GeneReviews
®
[Internet]. Seattle: University
of Washington. Retrieved from https://
www.ncbi.nlm.nih.gov/books/NBK1207/
Katsanis, S. H., & Jabs, E. W. (Updated 2018,
September 27). Treacher Collins syndrome.
In M. P. Adam, H. H. Ardinger, R. A. Pagon,
S. E. Wallace, L. J. H. Bean, K. Stephens, &
A. Amemiya (Eds.), GeneReviews
®
[Internet]. Seattle: University of Washington.
Retrieved from https://www.ncbi.nlm.nih
.gov/books/NBK1532/
Kemperman, M. H., Koch, S. M., Kumar, S.,
Huygen, P. L., Joosten, F. B., & Cremers, C.
W. (2004). Evidence of progression and fluctuation of hearing impairment in branchiooto-renal syndrome. International Journal of
Audiology, 43(9), 523–532.
Kittler, P. M., Phan, H. T., Gardner, J. M.,
Miroshnichenko, I., Gordon, A., & Karmel,
B. Z. (2009). Auditory brainstem evoked
responses in newborns with Down syndrome. American Journal on Intellectual and
Developmental Disabilities, 114(6), 393–400.
Kochhar, A., Hildebrand, M. S., & Smith, R. J.
(2007). Clinical aspects of hereditary hearing loss. Genetics in Medicine, 9(7), 393–408.
Lalani, S. R., Hefner, M. A., Belmont, J. W., &
Davenport, S. L. H. (Updated 2012, February 2). CHARGE syndrome. In M. P. Adam,
H. H. Ardinger, R. A. Pagon, S. E. Wallace,
L. J. H. Bean, K. Stephens, & A. Amemiya
(Eds.), GeneReviews
®
[Internet]. Seattle:
University of Washington. Retrieved from
https://www.ncbi.nlm.nih.gov/books/
NBK1117/
Lentz, J., & Keats, B. J. B. (Updated 2016a, May
19). Usher syndrome type I. In M. P. Adam,
H. H. Ardinger, R. A. Pagon, S. E. Wallace,
L. J. H. Bean, K. Stephens, & A. Amemiya
(Eds.), GeneReviews
®
[Internet]. Seattle:
University of Washington. Retrieved from
https://www.ncbi.nlm.nih.gov/books/
NBK1265/
Lentz, J., & Keats, B. (Updated 2016b, July 21).
Usher syndrome type II. In M. P. Adam, H.
H. Ardinger, R. A. Pagon, S. E. Wallace, L. J.
H. Bean, K. Stephens, & A. Amemiya (Eds.),
GeneReviews
®
[Internet]. Seattle: University
of Washington. Retrieved from https://
www.ncbi.nlm.nih.gov/books/NBK1341/
Leventer, R. J., Jansen, A., Pilz, D. T., Stoodley,
N., Marini, C., Dubeau, F., . . . Dobyns, W. B.
(2010). Clinical and imaging heterogeneity
of polymicrogyria: A study of 328 patients.
Brain, 133(Pt. 5), 1415–1427.
Lewis, R. (2018). Human genetics: Concepts
and applications (12th ed.). New York, NY:
McGraw-Hill.
Liess, B. D., & Kinney, W. C. (2007). Disor-
ders of the auricle. In G. B. Hughes & M. L.
Pensak (Eds.), Clinical otology (3rd ed., pp.
193–210). New York, NY: Thieme.
Ma, X., Xie, F., Zhang, C., Xu, J., Lu, J., & Teng,
L. (2019). Correlation between mandible
and external ear in patients with TreacherCollins syndrome. Journal of Craniofacial
Surgery, 30(4), 975–979.
9. Hereditary and Congenital Hearing Loss 451
https://t.me/medicina_free
Milunsky, J. M. (Updated 2017, May 4). Waar-
denburg syndrome type I. In M. P. Adam,
H. H. Ardinger, R. A. Pagon, S. E. Wallace,
L. J. H. Bean, K. Stephens, & A. Amemiya
(Eds.), GeneReviews
®
[Internet]. Seattle:
University of Washington. Retrieved from
https://www.ncbi.nlm.nih.gov/books/
NBK1531/
Musiek, F. E., & Baran, J. A. (2020). The audi-
tory system: Anatomy, physiology, and clinical
correlates (2nd ed.). San Diego, CA: Plural
Publishing.
Musiek, F. E., & Chermak, G. D. (Eds.). (2014).
Handbook of central auditory processing disorder:
Volume 1. Auditory neuroscience and diagnosis
(2nd ed.). San Diego, CA: Plural Publishing.
National Birth Defects Prevention Network.
(2013). Major birth defects data from population-based birth defects surveillance
programs in the United States, 2006–2010.
Birth Defects Research (Part A): Clinical and
Molecular Teratology, 97, S1–S172.
National Institute on Deafness and Other
Communication Disorders. (Updated 2016,
December 15). Quick statistics about hear-
ing. Retrieved from https://www.nidcd
.nih.gov/health/statistics/quick-statisticshearing
National Institute on Deafness and Other Com-
munication Disorders. (Updated 2018, July
17). Hearing loss and older adults. Retrieved
from https://www.nidcd.nih.gov/health/
hearing-loss-older-adults
National Organization for Rare Disorders.
(2007). Rare disease database. Agenesis of the
corpus callosum. Retrieved from https://
rarediseases.org/rare-diseases/agenesisof-corpus-callosum/
National Organization for Rare Disorders.
(2015). Rare disease database. Waardenburg
syndrome. Retrieved from https://raredis
eases.org/rare-diseases/waardenburg-syn
drome/
National Organization for Rare Disorders.
(2018). Rare disease database. Branchiootorenal
spectrum disorders. Retrieved from https://
rarediseases.org/rare-diseases/branchiooto-renal-syndrome/
Nightengale, E., Yoon, P., Wolter-Warmerdam,
K., Daniels, D., & Hickey, F. (2017). Understanding hearing and hearing loss in children with Down syndrome. American Jour-
nal of Audiology, 26(3), 301–308.
Palmer, E. E., & Mowat, D. (2014). Agenesis
of the corpus callosum: A clinical approach
to diagnosis. American Journal of Medical
Genetics. Part C, Seminars in Medical Genetics, 166C(2), 184–197.
Paul, L. K., Brown, W. S., Adolphs, R., Tyszka,
J. M., Richards, L. J., Mukherjee, P., &
Sherr, E. H. (2007). Agenesis of the corpus
callosum: Genetic, developmental and
functional aspects of connectivity. Nature
Reviews Neuroscience, 8(4), 287–929.
Parrini, E., Conti, V., Dobyns, W. B., & Guer-
rini, R. (2016). Genetic basis of brain malformations. Molecular Syndromology, 7(4),
220–233.
Pavone, P., Praticò, A. D., Rizzo, R., Corsello,
G., Ruggieri, M., Parano, E., & Falsaperla,
R. (2017). A clinical review on megalencephaly: A large brain as a possible sign of
cerebral impairment. Medicine (Baltimore),
96(26), e6814. https://doi.org/10.1097/
MD.0000000000006814
Pirozzi, F., Nelson, B., & Mirzaa, G. (2018).
From microcephaly to megalencephaly:
Determinants of brain size. Dialogues in
Clinical Neuroscience, 20(4), 267–282.
Printzlau, A., & Andersen, M. (2004). Pierre
Robin sequence in Denmark: A retrospective population-based epidemiological
study. Cleft Palate Craniofacial Journal, 41(1),
47–52.
Read, A., & Donnai, D. (2015). New clinical
genetics (3rd ed.). Oxfordshire, UK: Scion.
Resta, R., Biesecker, B. B., Bennett, R. L., Blum,
S., Hahn, S. E., Strecker, M. N., & Williams,
J. L. (2006). A new definition of genetic
counseling: National Society of Genetic
Counselors’ Task Force report. Journal of
Genetic Counseling, 15(2), 77–83.
Reynolds, J. E., Meyer, J. M., Landa, B., Ste-
vens, C. A., Arnos, K. S., Israel, J., . . . Diehl,
S. R. (1995). Analysis of variability of clinical manifestations in Waardenburg syn-
Соседние файлы в папке Библиотека им академика М.И. Перельмана