apnea has been researched along with Deficiency, Mental in 37 studies
Apnea: A transient absence of spontaneous respiration.
| Excerpt | Relevance | Reference |
|---|---|---|
| "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." | 7.88 | Epileptic 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)." | 7.67 | Differential 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." | 4.78 | Atelosteogenesis 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." | 4.12 | Hypotonic 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." | 3.96 | Two 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." | 3.88 | Epileptic 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." | 3.88 | A 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." | 3.71 | Bifid 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." | 3.70 | Maternal 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." | 3.67 | Breathing 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)." | 3.67 | Differential 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." | 3.65 | Optic 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." | 1.31 | A 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." | 1.26 | Complications related to the administration of general anesthesia in 600 developmentally disabled dental patients. ( Cohen, L; Coke, JM; Libman, RH, 1979) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 20 (54.05) | 18.7374 |
| 1990's | 4 (10.81) | 18.2507 |
| 2000's | 6 (16.22) | 29.6817 |
| 2010's | 4 (10.81) | 24.3611 |
| 2020's | 3 (8.11) | 2.80 |
| Authors | Studies |
|---|---|
| Wyrebek, R | 1 |
| DiBartolomeo, M | 1 |
| Brooks, S | 1 |
| Geller, T | 1 |
| Crenshaw, M | 1 |
| Iyadurai, S | 1 |
| Inui, T | 1 |
| Iwama, K | 1 |
| Miyabayashi, T | 1 |
| Sato, R | 1 |
| Okubo, Y | 1 |
| Endo, W | 1 |
| Togashi, N | 1 |
| Kakisaka, Y | 1 |
| Kikuchi, A | 1 |
| Mizuguchi, T | 1 |
| Kure, S | 1 |
| Matsumoto, N | 2 |
| Haginoya, K | 1 |
| Yamada, H | 1 |
| Tamasaki, A | 1 |
| Oguri, M | 1 |
| Hori, I | 1 |
| Saitoh, S | 1 |
| Maegaki, Y | 1 |
| Kohashi, K | 1 |
| Ishiyama, A | 1 |
| Yuasa, S | 1 |
| Tanaka, T | 1 |
| Miya, K | 1 |
| Adachi, Y | 1 |
| Sato, N | 1 |
| Saitsu, H | 1 |
| Ohba, C | 1 |
| Murakami, Y | 1 |
| Kinoshita, T | 1 |
| Sugai, K | 1 |
| Sasaki, M | 1 |
| Yu, R | 1 |
| Guo, Y | 1 |
| Dan, Y | 1 |
| Tan, W | 1 |
| Mao, Q | 1 |
| Deng, G | 1 |
| Ebishima, Y | 1 |
| Misaki, T | 1 |
| Owa, K | 1 |
| Okuno, T | 1 |
| Wada, T | 1 |
| Suehiro, Y | 1 |
| Zweier, C | 1 |
| Sticht, H | 1 |
| Bijlsma, EK | 1 |
| Clayton-Smith, J | 1 |
| Boonen, SE | 1 |
| Fryer, A | 1 |
| Greally, MT | 1 |
| Hoffmann, L | 1 |
| den Hollander, NS | 1 |
| Jongmans, M | 1 |
| Kant, SG | 1 |
| King, MD | 1 |
| Lynch, SA | 1 |
| McKee, S | 1 |
| Midro, AT | 1 |
| Park, SM | 1 |
| Ricotti, V | 1 |
| Tarantino, E | 1 |
| Wessels, M | 1 |
| Peippo, M | 1 |
| Rauch, A | 1 |
| Verhulst, SL | 1 |
| De Dooy, J | 1 |
| Ramet, J | 1 |
| Bockaert, N | 1 |
| Van Coster, R | 1 |
| Ceulemans, B | 1 |
| De Backer, W | 1 |
| GRAHAM, FK | 1 |
| ERNHART, CB | 1 |
| THURSTON, D | 1 |
| Ohto, T | 1 |
| Iwasaki, N | 1 |
| Takahashi, M | 1 |
| Tanaka, R | 1 |
| Hamano, K | 1 |
| Matsui, A | 1 |
| Silvani, P | 1 |
| Camporesi, A | 1 |
| Zoia, E | 1 |
| Leoncino, S | 1 |
| Salvo, I | 1 |
| Utsch, B | 1 |
| Sayer, JA | 1 |
| Attanasio, M | 1 |
| Pereira, RR | 1 |
| Eccles, M | 1 |
| Hennies, HC | 1 |
| Otto, EA | 1 |
| Hildebrandt, F | 1 |
| Jones, RA | 1 |
| Lukeman, D | 1 |
| Lugaresi, E | 3 |
| Cirignotta, F | 3 |
| Egger, J | 1 |
| Bellman, MH | 1 |
| Ross, EM | 1 |
| Baraitser, M | 1 |
| Burroni, M | 1 |
| Perrotta, F | 1 |
| Rossolini, V | 1 |
| DiMario, FJ | 1 |
| Singh, HA | 1 |
| Camp, BW | 1 |
| Broman, SH | 1 |
| Nichols, PL | 1 |
| Leff, M | 1 |
| Yasuda, K | 1 |
| Koda, N | 1 |
| Kadowaki, H | 1 |
| Ogawa, Y | 1 |
| Kimura, S | 1 |
| Kadowaki, T | 1 |
| Akanuma, Y | 1 |
| Sung, MW | 1 |
| Kim, JW | 1 |
| Kim, KH | 1 |
| Libman, RH | 1 |
| Coke, JM | 1 |
| Cohen, L | 1 |
| Williams, HJ | 1 |
| Sane, SM | 1 |
| Wada, Y | 1 |
| Narisawa, K | 1 |
| Arakawa, T | 1 |
| Patel, H | 1 |
| Tze, WJ | 1 |
| Crichton, JU | 1 |
| McCormick, AQ | 1 |
| Robinson, GC | 1 |
| Dolman, CL | 1 |
| Kuwashima, S | 1 |
| Nishimura, G | 1 |
| Kikushima, H | 1 |
| Tanaka, G | 1 |
| Furukawa, T | 1 |
| Fujioka, M | 1 |
| Youssef, HA | 1 |
| Waddington, JL | 1 |
| Montagna, P | 2 |
| Partington, MW | 1 |
| Boltshauser, E | 1 |
| Lange, B | 1 |
| Dumermuth, G | 1 |
| Newman, LJ | 1 |
| Berezin, S | 1 |
| San Filippo, JA | 1 |
| Halata, M | 1 |
| Medow, MS | 1 |
| Schwarz, SM | 1 |
| Grossman, HJ | 1 |
| Francis-Williams, J | 1 |
| Davies, PA | 1 |
| Fitzhardinge, PM | 1 |
| Ramsay, M | 1 |
| Iivanainen, M | 1 |
| Collan, R | 1 |
| Donner, M | 1 |
| Bacola, E | 1 |
| Behrle, FC | 1 |
| De Schweinitz, L | 1 |
| Miller, HC | 1 |
| Mira, M | 1 |
2 reviews available for apnea and Deficiency, Mental
| Article | Year |
|---|---|
Atelosteogenesis type 3: the first patient in Japan and a survivor for more than 1 year.
Topics: Abnormalities, Multiple; Apnea; Cleft Palate; Dwarfism; Facial Bones; Humans; Intellectual Disabilit | 1992 |
Convulsive disorders in infants and children.
Topics: Adrenocorticotropic Hormone; Anticonvulsants; Apnea; Child; Child, Preschool; Electroencephalography | 1969 |
35 other studies available for apnea and Deficiency, Mental
| Article | Year |
|---|---|
Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine.
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.
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.
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.
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.
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].
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.
Topics: Adolescent; Apnea; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Child; Child, Presch | 2008 |
Acetazolamide for severe apnea in Pitt-Hopkins syndrome.
Topics: Acetazolamide; Apnea; Child; Facies; Humans; Hyperventilation; Intellectual Disability; Male; Young | 2012 |
The relationship of neonatal apnea to development at three years.
Topics: Apnea; Child; Delivery, Obstetric; Dystocia; Female; Humans; Hypoxia; Infant; Infant, Newborn; Infan | 1962 |
[A case of infantile epileptic apnea with congenital brain anomaly].
Topics: Apnea; Brain; Electroencephalography; Epilepsy; Female; Humans; Infant; Intellectual Disability; Val | 2003 |
Anesthetic management in a child with Coffin-Siris syndrome.
Topics: Abnormalities, Multiple; Amides; Analgesia, Epidural; Analgesics; Anesthetics, Inhalation; Anestheti | 2004 |
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
Topics: Adaptor Proteins, Signal Transducing; Adaptor Proteins, Vesicular Transport; Adolescent; Adult; Apne | 2006 |
Apnoea of immaturity. 2. Mortality and handicap.
Topics: Apnea; Disabled Persons; Female; Humans; Infant, Newborn; Infant, Premature, Diseases; Intellectual | 1982 |
An unusual type of respiratory apraxia.
Topics: Adolescent; Apnea; Child; Child, Preschool; Electroencephalography; Electromyography; Female; Humans | 1982 |
Joubert-Boltshauser syndrome with polydactyly in siblings.
Topics: Apnea; Cerebellum; Child, Preschool; Dandy-Walker Syndrome; Electroencephalography; Evoked Potential | 1982 |
[Joubert syndrome. Clinical contribution].
Topics: Adult; Apnea; Ataxia; Child; Child, Preschool; Female; Humans; Infant; Intellectual Disability; Male | 1980 |
Brainstem tubers presenting as disordered breathing in tuberous sclerosis complex.
Topics: Adult; Apnea; Brain Stem; Cerebral Ventricles; Follow-Up Studies; Humans; Intellectual Disability; M | 1995 |
Mental retardation, macrostomia and hyperpnoea syndrome.
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.
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.
Topics: Allosteric Regulation; Amino Acid Substitution; Ammonia; Apnea; Coma; Genetic Heterogeneity; Glutama | 2001 |
Bifid epiglottis associated with Joubert's syndrome.
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.
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.
Topics: Abnormalities, Multiple; Apnea; Child, Preschool; Cleft Palate; Follow-Up Studies; Gastrostomy; Huma | 1976 |
Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency.
Topics: Apnea; Brain; Consanguinity; Female; Genes, Recessive; Genetic Carrier Screening; Homocystinuria; Ho | 1978 |
Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism.
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.
Topics: Adult; Aged; Aged, 80 and over; Antipsychotic Agents; Apnea; Bipolar Disorder; Dyskinesia, Drug-Indu | 1989 |
Breathing impairment in Rett syndrome.
Topics: Adolescent; Adult; Apnea; Child; Female; Humans; Hyperventilation; Intellectual Disability; Movement | 1986 |
Rett syndrome in monozygotic twins.
Topics: Adult; Apnea; Diseases in Twins; Female; Humans; Intellectual Disability; Male; Pedigree; Seizures; | 1988 |
Differential diagnosis of syndromes with abnormal respiration (tachypnea-apnea).
Topics: Abnormalities, Multiple; Apnea; Brain Diseases; Dandy-Walker Syndrome; Diagnosis, Differential; Fema | 1987 |
A new ambulatory system for extended esophageal pH monitoring.
Topics: Adolescent; Ambulatory Care; Apnea; Child; Child, Preschool; Esophagus; Gastroesophageal Reflux; Hum | 1985 |
Abnormal breathing in the Rett syndrome.
Topics: Adolescent; Adult; Ammonia; Apnea; Child; Child Development; Dementia; Electroencephalography; Femal | 1985 |
Very low birthweight and later intelligence.
Topics: Apnea; Birth Weight; Black People; Female; Fertility; Fetal Diseases; Gestational Age; Humans; Hyper | 1974 |
The improving outlook for the small prematurely born infant.
Topics: Apnea; Asphyxia Neonatorum; Attention Deficit Disorder with Hyperactivity; Birth Weight; Child; Chil | 1973 |
Adverse effects of pneumoencephalography performed under general anaesthesia in children.
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.
Topics: Apnea; Birth Weight; Child; Child, Preschool; Environment; Female; Follow-Up Studies; Humans; Infant | 1966 |