Page last updated: 2024-10-31

apnea and Intellectual Disability

apnea has been researched along with Intellectual Disability in 37 studies

Apnea: A transient absence of spontaneous respiration.

Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

Research Excerpts

ExcerptRelevanceReference
"We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations."7.88Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. ( Adachi, Y; Ishiyama, A; Kinoshita, T; Kohashi, K; Matsumoto, N; Miya, K; Murakami, Y; Ohba, C; Saitsu, H; Sasaki, M; Sato, N; Sugai, K; Tanaka, T; Yuasa, S, 2018)
"We report a case of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) with repeated apnea attacks dating from the patient's 12th year."7.79[A case of X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia]. ( Ebishima, Y; Misaki, T; Okuno, T; Owa, K; Suehiro, Y; Wada, T, 2013)
"Two months-old girl with psychomotor retardation had aminophylline-resistant apnea attacks and was investigated by video-EEG recording."7.72[A case of infantile epileptic apnea with congenital brain anomaly]. ( Hamano, K; Iwasaki, N; Matsui, A; Ohto, T; Takahashi, M; Tanaka, R, 2003)
"Abnormal respiration with episodic tachypnea-apnea can occur in several syndromes (particularly, the Rett, Joubert, Mohr and Dandy-Walker syndromes)."7.67Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea). ( Boltshauser, E; Dumermuth, G; Lange, B, 1987)
" The infant experienced recurrent apnea and persistent severe tracheomalacia, which necessitated tracheostomy at 5 months of age."4.78Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year. ( Fujioka, M; Furukawa, T; Kikushima, H; Kuwashima, S; Nishimura, G; Tanaka, G, 1992)
" In addition, pyridostigmine also resulted in resolution of apneas and improved respiratory status which suggests its potential therapeutic role in patients with PURA syndrome."4.12Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine. ( Brooks, S; Crenshaw, M; DiBartolomeo, M; Geller, T; Iyadurai, S; Wyrebek, R, 2022)
" Two males and one female had intellectual disability and apnea, but none met the criteria of Rett syndrome."3.96Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2. ( Endo, W; Haginoya, K; Inui, T; Iwama, K; Kakisaka, Y; Kikuchi, A; Kure, S; Matsumoto, N; Miyabayashi, T; Mizuguchi, T; Okubo, Y; Sato, R; Togashi, N, 2020)
"We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations."3.88Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations. ( Adachi, Y; Ishiyama, A; Kinoshita, T; Kohashi, K; Matsumoto, N; Miya, K; Murakami, Y; Ohba, C; Saitsu, H; Sasaki, M; Sato, N; Sugai, K; Tanaka, T; Yuasa, S, 2018)
" Patients with BChE deficiency are possibly in danger of postanesthetic apnea."3.88A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report. ( Dan, Y; Deng, G; Guo, Y; Mao, Q; Tan, W; Yu, R, 2018)
"We report a case of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) with repeated apnea attacks dating from the patient's 12th year."3.79[A case of X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia]. ( Ebishima, Y; Misaki, T; Okuno, T; Owa, K; Suehiro, Y; Wada, T, 2013)
"Two months-old girl with psychomotor retardation had aminophylline-resistant apnea attacks and was investigated by video-EEG recording."3.72[A case of infantile epileptic apnea with congenital brain anomaly]. ( Hamano, K; Iwasaki, N; Matsui, A; Ohto, T; Takahashi, M; Tanaka, R, 2003)
" He had episodic tachypnea and apnea, inspiratory stridor, aspiration, and growth and mental retardation."3.71Bifid epiglottis associated with Joubert's syndrome. ( Kim, JW; Kim, KH; Sung, MW, 2001)
" Relative risk was also significantly increased with low 1 minute APGAR, primary apnea, and head circumference and length more than 2 SD below average but only in the low SES black subgroup."3.70Maternal and neonatal risk factors for mental retardation: defining the 'at-risk' child. ( Broman, SH; Camp, BW; Leff, M; Nichols, PL, 1998)
"Four patients with Rett syndrome had prominent abnormalities of breathing during active wakefulness, characterized by prolonged apnea intermixed with irregular and frequent respiratory movements."3.67Breathing impairment in Rett syndrome. ( Cirignotta, F; Lugaresi, E; Montagna, P, 1986)
"Abnormal respiration with episodic tachypnea-apnea can occur in several syndromes (particularly, the Rett, Joubert, Mohr and Dandy-Walker syndromes)."3.67Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea). ( Boltshauser, E; Dumermuth, G; Lange, B, 1987)
" The newborn had apnea, hypotonia, seizures, hyopglycemia, and prolong jaundice."3.65Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism. ( Crichton, JU; Dolman, CL; McCormick, AQ; Patel, H; Robinson, GC; Tze, WJ, 1975)
"A boy suffered from hypoglycemic coma with relative hyperinsulinemia on day 1 after birth, and received subtotal pancreatectomy."1.31A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene. ( Akanuma, Y; Kadowaki, H; Kadowaki, T; Kimura, S; Koda, N; Ogawa, Y; Yasuda, K, 2001)
"Handicaps included mental retardation, cerebral palsy, Down syndrome, seizure disorders, autism, cystic fibrosis, osteogenesis imperfecta, and muscular dystrophy."1.26Complications related to the administration of general anesthesia in 600 developmentally disabled dental patients. ( Cohen, L; Coke, JM; Libman, RH, 1979)

Research

Studies (37)

TimeframeStudies, this research(%)All Research%
pre-199020 (54.05)18.7374
1990's4 (10.81)18.2507
2000's6 (16.22)29.6817
2010's4 (10.81)24.3611
2020's3 (8.11)2.80

Authors

AuthorsStudies
Wyrebek, R1
DiBartolomeo, M1
Brooks, S1
Geller, T1
Crenshaw, M1
Iyadurai, S1
Inui, T1
Iwama, K1
Miyabayashi, T1
Sato, R1
Okubo, Y1
Endo, W1
Togashi, N1
Kakisaka, Y1
Kikuchi, A1
Mizuguchi, T1
Kure, S1
Matsumoto, N2
Haginoya, K1
Yamada, H1
Tamasaki, A1
Oguri, M1
Hori, I1
Saitoh, S1
Maegaki, Y1
Kohashi, K1
Ishiyama, A1
Yuasa, S1
Tanaka, T1
Miya, K1
Adachi, Y1
Sato, N1
Saitsu, H1
Ohba, C1
Murakami, Y1
Kinoshita, T1
Sugai, K1
Sasaki, M1
Yu, R1
Guo, Y1
Dan, Y1
Tan, W1
Mao, Q1
Deng, G1
Ebishima, Y1
Misaki, T1
Owa, K1
Okuno, T1
Wada, T1
Suehiro, Y1
Zweier, C1
Sticht, H1
Bijlsma, EK1
Clayton-Smith, J1
Boonen, SE1
Fryer, A1
Greally, MT1
Hoffmann, L1
den Hollander, NS1
Jongmans, M1
Kant, SG1
King, MD1
Lynch, SA1
McKee, S1
Midro, AT1
Park, SM1
Ricotti, V1
Tarantino, E1
Wessels, M1
Peippo, M1
Rauch, A1
Verhulst, SL1
De Dooy, J1
Ramet, J1
Bockaert, N1
Van Coster, R1
Ceulemans, B1
De Backer, W1
GRAHAM, FK1
ERNHART, CB1
THURSTON, D1
Ohto, T1
Iwasaki, N1
Takahashi, M1
Tanaka, R1
Hamano, K1
Matsui, A1
Silvani, P1
Camporesi, A1
Zoia, E1
Leoncino, S1
Salvo, I1
Utsch, B1
Sayer, JA1
Attanasio, M1
Pereira, RR1
Eccles, M1
Hennies, HC1
Otto, EA1
Hildebrandt, F1
Jones, RA1
Lukeman, D1
Lugaresi, E3
Cirignotta, F3
Egger, J1
Bellman, MH1
Ross, EM1
Baraitser, M1
Burroni, M1
Perrotta, F1
Rossolini, V1
DiMario, FJ1
Singh, HA1
Camp, BW1
Broman, SH1
Nichols, PL1
Leff, M1
Yasuda, K1
Koda, N1
Kadowaki, H1
Ogawa, Y1
Kimura, S1
Kadowaki, T1
Akanuma, Y1
Sung, MW1
Kim, JW1
Kim, KH1
Libman, RH1
Coke, JM1
Cohen, L1
Williams, HJ1
Sane, SM1
Wada, Y1
Narisawa, K1
Arakawa, T1
Patel, H1
Tze, WJ1
Crichton, JU1
McCormick, AQ1
Robinson, GC1
Dolman, CL1
Kuwashima, S1
Nishimura, G1
Kikushima, H1
Tanaka, G1
Furukawa, T1
Fujioka, M1
Youssef, HA1
Waddington, JL1
Montagna, P2
Partington, MW1
Boltshauser, E1
Lange, B1
Dumermuth, G1
Newman, LJ1
Berezin, S1
San Filippo, JA1
Halata, M1
Medow, MS1
Schwarz, SM1
Grossman, HJ1
Francis-Williams, J1
Davies, PA1
Fitzhardinge, PM1
Ramsay, M1
Iivanainen, M1
Collan, R1
Donner, M1
Bacola, E1
Behrle, FC1
De Schweinitz, L1
Miller, HC1
Mira, M1

Reviews

2 reviews available for apnea and Intellectual Disability

ArticleYear
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year.
    Acta paediatrica Japonica : Overseas edition, 1992, Volume: 34, Issue:5

    Topics: Abnormalities, Multiple; Apnea; Cleft Palate; Dwarfism; Facial Bones; Humans; Intellectual Disabilit

1992
Convulsive disorders in infants and children.
    IMJ. Illinois medical journal, 1969, Volume: 135, Issue:3

    Topics: Adrenocorticotropic Hormone; Anticonvulsants; Apnea; Child; Child, Preschool; Electroencephalography

1969

Other Studies

35 other studies available for apnea and Intellectual Disability

ArticleYear
Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine.
    Neuromuscular disorders : NMD, 2022, Volume: 32, Issue:2

    Topics: Acetylcholinesterase; Apnea; Channelopathies; DNA-Binding Proteins; Epilepsy; Humans; Infant; Intell

2022
Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.
    European journal of medical genetics, 2020, Volume: 63, Issue:3

    Topics: Apnea; Autonomic Nervous System Diseases; Child; Child, Preschool; Chromosomes, Human, X; Exome Sequ

2020
Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.
    Epileptic disorders : international epilepsy journal with videotape, 2020, Oct-01, Volume: 22, Issue:5

    Topics: Adult; Apnea; Disease Progression; Epilepsy, Generalized; Facies; Female; Humans; Hyperventilation;

2020
Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.
    Brain & development, 2018, Volume: 40, Issue:1

    Topics: Abnormalities, Multiple; Acyltransferases; Apnea; Atrophy; Developmental Disabilities; Epilepsy; Gly

2018
A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
    BMC medical genetics, 2018, 04-10, Volume: 19, Issue:1

    Topics: Adolescent; Apnea; Butyrylcholinesterase; Exons; Genetic Predisposition to Disease; Heterozygote; Hu

2018
[A case of X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome with repeated apnea attacks due to laryngomalacia].
    No to hattatsu = Brain and development, 2013, Volume: 45, Issue:1

    Topics: alpha-Thalassemia; Apnea; Child; Genetic Predisposition to Disease; Humans; Intellectual Disability;

2013
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
    Journal of medical genetics, 2008, Volume: 45, Issue:11

    Topics: Adolescent; Apnea; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Child; Child, Presch

2008
Acetazolamide for severe apnea in Pitt-Hopkins syndrome.
    American journal of medical genetics. Part A, 2012, Volume: 158A, Issue:4

    Topics: Acetazolamide; Apnea; Child; Facies; Humans; Hyperventilation; Intellectual Disability; Male; Young

2012
The relationship of neonatal apnea to development at three years.
    Research publications - Association for Research in Nervous and Mental Disease, 1962, Volume: 39

    Topics: Apnea; Child; Delivery, Obstetric; Dystocia; Female; Humans; Hypoxia; Infant; Infant, Newborn; Infan

1962
[A case of infantile epileptic apnea with congenital brain anomaly].
    No to hattatsu = Brain and development, 2003, Volume: 35, Issue:6

    Topics: Apnea; Brain; Electroencephalography; Epilepsy; Female; Humans; Infant; Intellectual Disability; Val

2003
Anesthetic management in a child with Coffin-Siris syndrome.
    Paediatric anaesthesia, 2004, Volume: 14, Issue:8

    Topics: Abnormalities, Multiple; Amides; Analgesia, Epidural; Analgesics; Anesthetics, Inhalation; Anestheti

2004
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
    Pediatric nephrology (Berlin, Germany), 2006, Volume: 21, Issue:1

    Topics: Adaptor Proteins, Signal Transducing; Adaptor Proteins, Vesicular Transport; Adolescent; Adult; Apne

2006
Apnoea of immaturity. 2. Mortality and handicap.
    Archives of disease in childhood, 1982, Volume: 57, Issue:10

    Topics: Apnea; Disabled Persons; Female; Humans; Infant, Newborn; Infant, Premature, Diseases; Intellectual

1982
An unusual type of respiratory apraxia.
    Electroencephalography and clinical neurophysiology. Supplement, 1982, Issue:35

    Topics: Adolescent; Apnea; Child; Child, Preschool; Electroencephalography; Electromyography; Female; Humans

1982
Joubert-Boltshauser syndrome with polydactyly in siblings.
    Journal of neurology, neurosurgery, and psychiatry, 1982, Volume: 45, Issue:8

    Topics: Apnea; Cerebellum; Child, Preschool; Dandy-Walker Syndrome; Electroencephalography; Evoked Potential

1982
[Joubert syndrome. Clinical contribution].
    Minerva pediatrica, 1980, Jun-15, Volume: 32, Issue:11

    Topics: Adult; Apnea; Ataxia; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male

1980
Brainstem tubers presenting as disordered breathing in tuberous sclerosis complex.
    Journal of child neurology, 1995, Volume: 10, Issue:5

    Topics: Adult; Apnea; Brain Stem; Cerebral Ventricles; Follow-Up Studies; Humans; Intellectual Disability; M

1995
Mental retardation, macrostomia and hyperpnoea syndrome.
    Journal of paediatrics and child health, 1993, Volume: 29, Issue:2

    Topics: Abnormalities, Multiple; Apnea; Face; Follow-Up Studies; Humans; Hyperventilation; Infant; Intellect

1993
Maternal and neonatal risk factors for mental retardation: defining the 'at-risk' child.
    Early human development, 1998, Jan-09, Volume: 50, Issue:2

    Topics: Apgar Score; Apnea; Central Nervous System; Child; Cohort Studies; Education; Ethnicity; Female; Fol

1998
A Japanese case of congenital hyperinsulinism with hyperammonemia due to a mutation in glutamate dehydrogenase (GLUD1) gene.
    Internal medicine (Tokyo, Japan), 2001, Volume: 40, Issue:1

    Topics: Allosteric Regulation; Amino Acid Substitution; Ammonia; Apnea; Coma; Genetic Heterogeneity; Glutama

2001
Bifid epiglottis associated with Joubert's syndrome.
    The Annals of otology, rhinology, and laryngology, 2001, Volume: 110, Issue:2

    Topics: Abnormalities, Multiple; Apnea; Cerebellum; Child, Preschool; Epiglottis; Humans; Intellectual Disab

2001
Complications related to the administration of general anesthesia in 600 developmentally disabled dental patients.
    Journal of the American Dental Association (1939), 1979, Volume: 99, Issue:2

    Topics: Adolescent; Adult; Anesthesia, Dental; Anesthesia, General; Apnea; Child; Child, Preschool; Disabled

1979
Cerebro-costo-mandibular syndrome: long term follow-up of a patient and review of the literature.
    AJR. American journal of roentgenology, 1976, Volume: 126, Issue:6

    Topics: Abnormalities, Multiple; Apnea; Child, Preschool; Cleft Palate; Follow-Up Studies; Gastrostomy; Huma

1976
Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency.
    Monographs in human genetics, 1978, Volume: 9

    Topics: Apnea; Brain; Consanguinity; Female; Genes, Recessive; Genetic Carrier Screening; Homocystinuria; Ho

1978
Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.
    American journal of diseases of children (1960), 1975, Volume: 129, Issue:2

    Topics: Abnormalities, Multiple; Age Factors; Apnea; Blood Glucose; Brain; Child, Preschool; Diabetes Insipi

1975
Characterization of abnormal respiratory movements in schizophrenic, bipolar and mentally handicapped patients with typical tardive dyskinesia.
    International clinical psychopharmacology, 1989, Volume: 4, Issue:1

    Topics: Adult; Aged; Aged, 80 and over; Antipsychotic Agents; Apnea; Bipolar Disorder; Dyskinesia, Drug-Indu

1989
Breathing impairment in Rett syndrome.
    American journal of medical genetics. Supplement, 1986, Volume: 1

    Topics: Adolescent; Adult; Apnea; Child; Female; Humans; Hyperventilation; Intellectual Disability; Movement

1986
Rett syndrome in monozygotic twins.
    American journal of medical genetics, 1988, Volume: 29, Issue:3

    Topics: Adult; Apnea; Diseases in Twins; Female; Humans; Intellectual Disability; Male; Pedigree; Seizures;

1988
Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea).
    Brain & development, 1987, Volume: 9, Issue:5

    Topics: Abnormalities, Multiple; Apnea; Brain Diseases; Dandy-Walker Syndrome; Diagnosis, Differential; Fema

1987
A new ambulatory system for extended esophageal pH monitoring.
    Journal of pediatric gastroenterology and nutrition, 1985, Volume: 4, Issue:5

    Topics: Adolescent; Ambulatory Care; Apnea; Child; Child, Preschool; Esophagus; Gastroesophageal Reflux; Hum

1985
Abnormal breathing in the Rett syndrome.
    Brain & development, 1985, Volume: 7, Issue:3

    Topics: Adolescent; Adult; Ammonia; Apnea; Child; Child Development; Dementia; Electroencephalography; Femal

1985
Very low birthweight and later intelligence.
    Developmental medicine and child neurology, 1974, Volume: 16, Issue:6

    Topics: Apnea; Birth Weight; Black People; Female; Fertility; Fetal Diseases; Gestational Age; Humans; Hyper

1974
The improving outlook for the small prematurely born infant.
    Developmental medicine and child neurology, 1973, Volume: 15, Issue:4

    Topics: Apnea; Asphyxia Neonatorum; Attention Deficit Disorder with Hyperactivity; Birth Weight; Child; Chil

1973
Adverse effects of pneumoencephalography performed under general anaesthesia in children.
    Annals of clinical research, 1970, Volume: 2, Issue:1

    Topics: Anesthesia, General; Apnea; Arrhythmias, Cardiac; Cerebral Ventriculography; Cerebrospinal Fluid; Ch

1970
Perinatal and environmental factors in late neurogenic sequelae. I. Infants having birth weights under 1,500 grams.
    American journal of diseases of children (1960), 1966, Volume: 112, Issue:4

    Topics: Apnea; Birth Weight; Child; Child, Preschool; Environment; Female; Follow-Up Studies; Humans; Infant

1966