History of mental retardation: An essay review.

Mutations in the CACNA1A gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the CACNA1A gene (c.4055G>A, p.R1352Q). The R1352Q CACNA1A variant shares the phenotype with other described CACNA1A mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

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A History of Mental Retardation

Genetics of Developmental Disabilities ◽

10.1201/9780429264078-1 ◽

2019 ◽

pp. 1-34

Author(s):

Giovanni Neri ◽

Francesco D. Tiziano

Keyword(s):

Mental Retardation ◽

History Of

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Children With Self-Injurious Behavior

PEDIATRICS ◽

10.1542/peds.85.3.437 ◽

1990 ◽

Vol 85 (3) ◽

pp. 437-441 ◽

Cited By ~ 1

Author(s):

Susan L. Hyman ◽

Wayne Fisher ◽

Marianne Mercugliano ◽

Michael F. Cataldo

Keyword(s):

Mental Retardation ◽

Pervasive Developmental Disorders ◽

Developmental Disorders ◽

Callus Formation ◽

Physical Injury ◽

Community Based ◽

History Of ◽

Developmental Characteristics ◽

Age Range ◽

Individuals With Mental Retardation

Self-injurious behavior is a serious problem that is not uncommon among individuals with mental retardation. Medical and developmental characteristics of 97 children, adolescents, and young adults (age range 11 months to 21 years, 11 months) assessed and treated for self-injurious behavior in a specialized, interdisciplinary inpatient unit between 1980 and 1988 were reviewed. This population differed from those reported in previous studies in that it was of school age and predominantly community based. Severe or profound mental retardation was present in 82.5% of our patients. The causative diagnoses associated with self-injurious behavior were similar to those of severe mental retardation alone. Associated disabilities represented at greater than expected frequencies included pervasive developmental disorders, visual impairment, and a history of infantile spasms. Most patients (81.4%) engaged in more than one type of self-injurious behavior. The most common topographies were head banging, biting, head hitting, body hitting, and scratching. Physical injury was documented in 77% of cases; the injuries most frequently reported were excoriations, scars/callus formation, hematomas, and local infection. As community placement of handicapped individuals continues to increase, pediatricians will be called upon to monitor patients who engage in self-injurious behavior.

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PREVALENCE OF MENTAL RETARDATION IN A PEDIATRIC OUTPATIENT CLINIC POPULATION

PEDIATRICS ◽

10.1542/peds.36.6.922 ◽

1965 ◽

Vol 36 (6) ◽

pp. 922-929

Author(s):

Sonya Oppenheimer ◽

Pearl Whitman ◽

Hedy Rutman ◽

Kirsten Werrenrath

Keyword(s):

Mental Retardation ◽

Medical Diagnosis ◽

Clinical Observation ◽

Academic Failure ◽

Outpatient Clinics ◽

High Risk Population ◽

School Age ◽

History Of ◽

Age Range ◽

Clinic Population

For a period of 4 weeks, all children coming to the pediatric outpatient clinics at Babies and Childrens Hospital were screened for possible mental retardation. On the basis of history and clinical observation, 125 were referred to a special diagnostic team. Of these, 68 proved to have measured intelligence below 75 which gives an over-all prevalence rate for this clinic population of 9.4%. This is higher than previously reported prevalence rates indicating that this is a high-risk population. The results of this investigation contrasted with the results of other surveys in that (1) the number of severely retarded nearly approximated the number of mildly retarded (42.6 compared with 57.4%); (2) a definite medical diagnosis was established in the majority of cases 54.4%); and (3) the cases were fairly evenly distributed over the total age range with about 10% prevalence in the children under the age of 5 years. A high percentage (nearly 42%) of the school-age clinic children of normal intelligence had a history of academic failure. Mental retardation is presented as a modifiable symptom rather than a disease which must follow a predetermined course. The children identified as retarded by this survey may not be permanently handicapped but they are assumed to have special needs. The implications for pediatric management and preventive services are briefly discussed.

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THE EARLY HISTORY OF OXYGEN USE FOR PREMATURE INFANTS

PEDIATRICS ◽

10.1542/peds.57.4.592 ◽

1976 ◽

Vol 57 (4) ◽

pp. 592-598

Keyword(s):

Mental Retardation ◽

World War Ii ◽

Premature Infants ◽

Oxygen Therapy ◽

Early History ◽

Neurological Deficits ◽

Major Advance ◽

World War ◽

History Of ◽

The Relationship

Thus, by the end of 1948, belief in the value of oxygen therapy was universal. The newborn infant was thought to be more resistant to higher pressures of oxygen than the adult, and oxygen was accepted as being generally beneficial to the premature infant. Pediatricians concerned with mortality, neurological deficits such as cerebral diplegia and mental retardation, or with cyanotic attacks and apnea had a firm rationale for their strong emphasis on prompt and vigorous oxygen therapy as a major advance in the care of premature infants. Better incubators and piped-in oxygen in the new premature centers permitted better care after World War II. The relationship between RLF and oxygen therapy was neither known nor suspected.

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