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Decorative
2018 National Child Count of Children and Youth Who Are Deaf-Blind Report

Etiologies

Over 70 specific etiologies are identified in the 2018 National Deaf-Blind Child Count. Some are exceedingly rare, with less than five cases. Others are much more prevalent. There are 12 etiologies with at least 100 cases.

Complications from prematurity continues to be the most commonly identified etiology. The prevalence of CHARGE syndrome continues to increase. In 2018 there were 933 children and youth identified as having CHARGE syndrome. While still relatively rare, the prevalence of children with Stickler syndrome and Dandy Walker syndrome has also increased. About 19% of the children and youth have no determined etiology.

Overall, the total number of children and youth identified with a prenatal congenital or postnatal non-congenital etiology has declined from 2,732 to 2,551 over the past five years, while the number with hereditary syndromes and disorders has increased from 3,945 to 4,482. Hereditary syndrome and disorders now account for 44.8% of all identified etiologies. Prenatal congenital complications account for 13.9% of identified etiologies and postnatal non-congenital complications account for 11.6% of identified etiologies. Complications from prematurity account for 10.5% of identified etiologies and 19.2% of the children and youth had no identified etiology at the time data was collected.

Congenital Rubella Syndrome (CRS), which has long been associated with the development of the deaf-blind technical assistance system, is no longer a prevalent etiology. In 2018, there were 33 individuals whose etiology was identified as CRS, down from 89 in 2010. Over 75% of these individuals are over 10 years of age and over 50% are 15 years of age or older. The heterogeneous nature of the population cannot be overstated. The etiologies or causes of deaf-blindness bring unique issues and challenges. Some are relatively more common, such as CHARGE syndrome, Down syndrome, Usher syndrome, and Cytomegalovirus. Some are very rare, with less than five individuals reported nationally, such as Batten disease, Prader-Willi, and Kearns-Sayre syndrome.

Primary Identified Etiology

Hereditary Syndromes/Disorders Total
CHARGE Syndrome 958
Usher syndrome (I,II,III) 345
Down syndrome (Trisomy 21 syndrome) 308
Stickler syndrome 130
Dandy Walker syndrome 119
Goldenhar syndrome 98
OTHER: Hereditary Syndrome/Disorders      2719
Prenatal/Congenital Complications Total
Cytomegalovirus (CMV) 293
Hydrocephaly 203
Microcephaly 211
OTHER: Pre-Natal/Congenital Complications 632
Postnatal/Non-Congenital Total
Asphyxia 183
Severe Head Injury 137
Meningitis 132
OTHER: Post-Natal/Non-Congenital                  700
Complication of Prematurity                            991
No Determination of Etiology                         1745

 

Etiologies: Alphabetical Order by Category

Download the PDF version of the tables that are displayed below.

Hereditary Syndromes and Disorders Total
Aicardi syndrome 29
Alport syndrome 6
Alstrom syndrome 27
Apert syndrome/Acrocephalosyndactyly, Type 1 8
Bardet-Biedl syndrome (Laurence Moon-Biedl) 15
Batten disease 5
CHARGE Syndrome 958
Chromosome 18, Ring 18 31
Cockayne syndrome 9
Cornelia de Lange 102
Cri du chat syndrome (Chromosome 5p- synd) 16
Crouzon syndrome (Craniofacial Dysotosis) 13
Dandy Walker syndrome 119
Down syndrome (Trisomy 21 syndrome) 308
Goldenhar syndrome 98
Hand-Schuller-Christian (Histiocytosis X) 2
Herpes-Zoster (or Hunt) 1
Hunter Syndrome (MPS II) 2
Hurler syndrome (MPS I-H) 15
Kearns-Sayre syndrome 5
Klippel-Feil sequence 5
Kniest Dysplasia 12
Leber congenital amaurosis 35
Leigh Disease 8
Marfan syndrome 3
Marshall syndrome 25
Maroteaux-Lamy syndrome (MPS VI) 2
Moebius syndrome 55
Monosomy 10p 6
Morquio syndrome (MPS IV-B) 2
NF1 - Neurofibromatosis (von Recklinghausen dis) 13
NF2 - Bilateral Acoustic Neurofibromatosis 6
Norrie disease 38
Optico-Cochleo-Dentate Degeneration 2
Pfieffer syndrome 27
Prader-Willi 5
Pierre-Robin syndrome 57
Refsum syndrome 21
Smith-Lemli-Opitz (SLO) syndrome 2
Stickler syndrome 130
Sturge-Weber syndrome 5
Treacher Collins syndrome 27
Trisomy 13 (Trisomy 13-15, Patau syndrome) 60
Trisomy 18 (Edwards syndrome) 52
Turner syndrome 11
Usher I syndrome 252
Usher II syndrome 83
Usher III syndrome 10
Vogt-Koyanagi-Harada syndrome 1
Waardenburg syndrome 27
Wildervanck syndrome 2
Wolf-Hirschhorn syndrome (Trisomy 4p) 68
OTHER: Hereditary Syndromes/ Disorders 1,855
Pre Natal Congenital Complications Total
Congenital Rubella 33
Congenital Syphilis 2
Congenital Toxoplasmosis 11
Cytomegalovirus (CMV) 293
Fetal Alcohol syndrome 17
Hydrocephaly 203
Maternal Drug Use 71
Microcephaly 211
Neonatal Herpes Simplex (HSV) 8
OTHER: Pre-Natal/ Congenital Complications 490
Post Natal Non-Congenital Complications Totals
Asphyxia 184
Direct Trauma to the eye and/or ear 12
Encephalitis 49
Infections 30
Meningitis 132
Severe Head Injury 137
Stroke 57
Tumors 91
Chemically Induced 16
OTHER: Post-Natal/ Non-Congenital 437
Additional Etiologies Total
Complication of Prematurity 991
No Determination of Etiology 1,745

 

Etiologies: Frequency Order by Category

Download the PDF version of the tables that are displayed below.

Hereditary Syndromes and Disorders Total
CHARGE Syndrome 958
Down syndrome (Trisomy 21 syndrome) 308
Usher I syndrome 252
Stickler syndrome 130
Dandy Walker syndrome 119
Cornelia de Lange 102
Goldenhar syndrome 98
Usher II syndrome 83
Wolf-Hirschhorn syndrome (Trisomy 4p) 68
Trisomy 13 (Trisomy 13-15, Patau syndrome) 60
Pierre-Robin syndrome 57
Moebius syndrome 55
Trisomy 18 (Edwards syndrome) 52
Norrie disease 38
Leber congenital amaurosis 35
Chromosome 18, Ring 18 31
Aicardi syndrome 29
Alstrom syndrome 27
Pfieffer syndrome 27
Treacher Collins syndrome 27
Waardenburg syndrome 27
Marshall syndrome 25
Refsum syndrome 21
Cri du chat syndrome (Chromosome 5p- synd) 16
Bardet-Biedl syndrome (Laurence Moon-Biedl) 15
Hurler syndrome (MPS I-H) 15
Crouzon syndrome (Craniofacial Dysotosis) 13
NF1 - Neurofibromatosis (von Recklinghausen dis) 13
Kniest Dysplasia 12
Turner syndrome 11
Usher III syndrome 10
Cockayne syndrome 9
Apert syndrome/Acrocephalosyndactyly, Type 1 8
Leigh Disease 8
Alport syndrome 6
Monosomy 10p 6
NF2 - Bilateral Acoustic Neurofibromatosis 6
Batten disease 5
Kearns-Sayre syndrome 5
Klippel-Feil sequence 5
Prader-Willi 5
Sturge-Weber syndrome 5
Marfan syndrome 3
Hand-Schuller-Christian (Histiocytosis X) 2
Hunter Syndrome (MPS II) 2
Maroteaux-Lamy syndrome (MPS VI) 2
Morquio syndrome (MPS IV-B) 2
Optico-Cochleo-Dentate Degeneration 2
Smith-Lemli-Opitz (SLO) syndrome 2
Wildervanck syndrome 2
Herpes-Zoster (or Hunt) 1
Vogt-Koyanagi-Harada syndrome 1
OTHER: Hereditary Syndromes/ Disorders 1,855
Pre Natal Congenital Complications Total
Cytomegalovirus (CMV) 293
Microcephaly 211
Hydrocephaly 203
Maternal Drug Use 71
Congenital Rubella 33
Fetal Alcohol syndrome 17
Congenital Toxoplasmosis 11
Neonatal Herpes Simplex (HSV) 8
Congenital Syphilis 2
OTHER: Pre-Natal/ Congenital Complications 490
Post Natal Non-Congenital Complications Totals
Asphyxia 184
Severe Head Injury 137
Meningitis 132
Tumors 91
Stroke 57
Encephalitis 49
Infections 30
Chemically Induced 16
Direct Trauma to the eye and/or ear 12
OTHER: Post-Natal/ Non-Congenital 437
Additional Etiologies Total
Complication of Prematurity 991
No Determination of Etiology 1,745