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Specific development disorders of speech and language

DOID EFO Endpoint Browser PheWeb

F5_SPEECH

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — F80
  • Hospital discharge: ICD-9 — 3153
  • Hospital discharge: ICD-8 — 3060
  • Cause of death: ICD-10 — F80
  • Cause of death: ICD-9 — 3153
  • Cause of death: ICD-8 — 3060

2 out of 7 registries used, show all original rules.

2269

4. Check minimum number of events

None

2269

5. Include endpoints

2269

6. Filter based on genotype QC (FinnGen only)

2103

Control definitions (FinnGen only)

Control exclude F5_PSYCHDEV

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF9
Parent code in ICD-10 F80-F89
Name in latin Perturbationes specificae progressus dictionis et linguae

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 65508 19893 45590
Only index persons 49393 15358 34035
Unadjusted period prevalence (%)
Whole population 1.06 0.57 1.27
Only index persons 1.07 0.56 1.30
Median age at first event (years)
Whole population 5.39 5.72 5.22
Only index persons 5.75 6.18 5.55

-FinnGen-

Key figures

All Female Male
Number of individuals 2103 981 1122
Unadjusted period prevalence (%) 0.48 0.39 0.56
Median age at first event (years) 7.37 8.89 6.04

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

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Association

Association between endpoint F5_SPEECH and mortality.

Females

Parameter HR [95% CI] p-value
F5_SPEECH 2.33 [1.63, 3.33] < 0.001
Birth year 0.997 [0.99, 1.01] 0.521

During the follow-up period (1.1.1998 — 31.12.2019), 456 out of 16064 females with F5_SPEECH died.

Males

Parameter HR [95% CI] p-value
F5_SPEECH 1.96 [1.3, 2.95] 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 439 out of 36866 males with F5_SPEECH died.

Mortality risk

Mortality risk for people of age

years, who have F5_SPEECH.

N-year risk Females Males
1 0.163% 0.335%
5 1.268% 2.075%
10 3.551% 5.315%
15 6.847% 10.057%
20 12.053% 16.402%

Relationships between endpoints

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Index endpoint: F5_SPEECH – Specific development disorders of speech and language

GWS hits: 1

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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