scholarly journals Cerebral palsy: not always what it seems

2018 ◽  
Vol 104 (8) ◽  
pp. 809-814 ◽  
Author(s):  
Richard E Appleton ◽  
Rajat Gupta
Keyword(s):  
Cerebral Palsy ◽  
Cognitive Impairment ◽  
Family History ◽  
Metabolic Disorders ◽  
Brain Mri ◽  
Signs And Symptoms ◽  
Neurological Syndrome ◽  
Clinical Geneticist ◽  
History Of ◽  
Cerebral Insult

Cerebral palsy (CP) is not a disease, but a neurological syndrome, a combination of signs and symptoms, some of which may occur in neurodegenerative or metabolic disorders, particularly those with an onset in the first 2 years of life. There are many different causes of the syndrome. All children with CP should undergo brain MRI, even with an identified antenatal or perinatal insult. Children with CP should be referred to a paediatric neurologist or a clinical geneticist, or both, if appropriate and particularly in the absence of a known perinatal cerebral insult, with brain MRI that is reported to be normal, a progression in, or new, signs or where there is a reported ‘family history of CP’. Finally, a few of the CP syndromes may be readily treatable and potentially prevent irreversible neurological and cognitive impairment.

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

scholarly journals Social, Environmental and Biological Determinants of Cerebral Palsy in Children with Intellectual Disabilities (ID) in India

2013 ◽  
Vol 3 (3) ◽  
pp. 262-268
Author(s):  
R Lakhan
Keyword(s):  
Logistic Regression ◽  
Cerebral Palsy ◽  
Intellectual Disability ◽  
Family History ◽  
Intellectual Disabilities ◽  
Comorbid Conditions ◽  
Downs Syndrome ◽  
History Of ◽  
Biological Determinants ◽  
Social Environmental

Background   Cerebral palsy (CP) is a global public health problem affecting 2.12 to 2.45 per 1000 live birth across the world. Cerebral palsy is an upper motor neuron, non-progressive disorder commonly associated with intellectual disability. The presence of cerebral palsy effects person’s overall life. Objectives This study primarily sought predictive capacity of social, environmental and biological determinants of CP in ID. Materials and Methods This is a cross-sectional study design. A total of 262 children, aged 3 to 18 years, with ID were assessed for cerebral palsy and diagnosed on basis of clinical examination in a community based rehabilitation project in Barwani, India. Information was collected by parent interviews, on social, environmental and biological determinants. A logistic regression model has been applied between determinants and CP.  Results Logistic regression demonstrated that likelihood of CP in ID children can be predicted on bases of their age (odd ratio = 0.856, CI 95% - 0.76-0.95), intelligence quotients (IQ) (odd ratio = 0.782, CI 95% - 0.73-0.83) and family history of intellectual disabilities (odd ratio = 0.051, CI 95% - 2.36 -0.99) and epilepsy (odd ratio = 0.008, CI 95% - 2.58-1.28). Comorbid conditions of downs syndrome and epilepsy also predicts likelihood of CP in ID. Conclusion Likelihood of CP in ID children can be predicted by their age, IQ, family history of intellectual disability, epilepsy and comorbid conditions of downs syndrome and epilepsy. Gender, socio-economic status and population (tribal versus non-tribal) determinants have no predictive relation with CP in the group. DOI: http://dx.doi.org/10.3126/nje.v3i3.9187 Nepal Journal of Epidemiology 2013;3(3): 262-268

Parental family history of dementia in relation to subclinical brain disease and dementia risk

Neurology ◽  
2017 ◽  
Vol 88 (17) ◽  
pp. 1642-1649 ◽  
Author(s):  
Frank J. Wolters ◽  
Sven J. van der Lee ◽  
Peter J. Koudstaal ◽  
Cornelia M. van Duijn ◽  
Albert Hofman ◽  
...  
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Genetic Risk ◽  
Brain Mri ◽  
Age At Onset ◽  
Age At Diagnosis ◽  
Parental History ◽  
Dementia Risk ◽  
History Of ◽  
Parental Family

Objective:To determine the association of parental family history with risk of dementia by age at onset and sex of affected parent in a population-based cohort.Methods:From 2000 to 2002, we assessed parental history of dementia in participants without dementia of the Rotterdam Study. We investigated associations of parental history with risk of dementia until 2015, adjusting for demographics, cardiovascular risk factors, and known genetic risk variants. Furthermore, we determined the association between parental history and markers of neurodegeneration and vascular disease on MRI.Results:Of 2,087 participants (mean age 64 years, 55% female), 407 (19.6%) reported a history of dementia in either parent (mean age at diagnosis 79 years). During a mean follow-up of 12.2 years, 142 participants developed dementia. Parental history was associated with risk of dementia independently of known genetic risk factors (hazard ratio [HR] 1.67, 95% confidence interval [CI] 1.12–2.48), in particular when parents were diagnosed at younger age (<80 years: HR 2.58, 95% CI 1.61–4.15; ≥80 years: HR 1.01, 95% CI 0.58–1.77). Accordingly, age at diagnosis in probands was highly correlated with age at diagnosis in their parents <80 years (r = 0.57, p = 0.001) but not thereafter (r = 0.17, p = 0.55). Among 1,161 participants without dementia with brain MRI, parental history was related to lower cerebral perfusion and higher burden of white matter lesions and microbleeds. Dementia risk and MRI markers were similar for paternal and maternal history.Conclusions:Parental history of dementia increases risk of dementia, primarily when age at parental diagnosis is <80 years. Unexplained heredity may be attributed in part to cerebral hypoperfusion and small vessel disease. We found no evidence of preferential maternal compared to paternal transmission.

Late-Life Depressive Disorder in the Community

1995 ◽  
Vol 166 (3) ◽  
pp. 316-319 ◽  
Author(s):  
Rob Van Ojen ◽  
Chris Hooijer ◽  
Dick Bezemer ◽  
Cees Jonker ◽  
Jaap Lindeboom ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Family History ◽  
Psychiatric Illness ◽  
Mental Health Problems ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Late Life ◽  
Late Life Depression ◽  
Stratified Sample ◽  
History Of

BackgroundIn previous studies, dementia was linked to a family history of dementia and Down's syndrome. This study tested the hypothesis that late-life depression accompanied by cognitive impairment in elderly individuals with no history of psychiatric illness is also associated with these family histories.MethodWe investigated an age-stratified sample of 4051 elderly people in the community aged 65–84 (AMSTEL). The relationship between family history (CAMDEX questionnaire) and depression (GMS-AGECAT diagnosis) was studied.ResultsA family history of mental health problems was associated with all subtypes of depression. Family history of dementia was associated with depression in subjects with a psychiatric history, but a family history of Down's syndrome was only associated with the combination of depression and cognitive impairment in subjects with no history of psychiatric illness.ConclusionsThe heritability pattern confirms the concept of a dementia-related subtype of late-life depression.

Risk factors for cognitive impairment in amyotrophic lateral sclerosis: a systematic review and meta-analysis

2021 ◽  
pp. jnnp-2020-325701
Author(s):  
Tianmi Yang ◽  
Yanbing Hou ◽  
Chunyu Li ◽  
Bei Cao ◽  
Yangfan Cheng ◽  
...  
Keyword(s):  
Risk Factors ◽  
Amyotrophic Lateral Sclerosis ◽  
Cognitive Impairment ◽  
Family History ◽  
Rating Scale ◽  
Or Education ◽  
Increased Risk ◽  
Bulbar Onset ◽  
History Of ◽  
Lateral Sclerosis

ObjectiveCognitive impairment is a common, far-reaching but imperceptible manifestation in patients with amyotrophic lateral sclerosis (ALS). We aimed to identify the risk factors for cognitive impairment in ALS.MethodsWe searched PubMed and EMBASE for cross-sectional, case–control and cohort studies that reported predictors of cognitive impairment in ALS. The obtained data were meta-analysed to generate overall ORs and 95% CIs.ResultsTwenty-seven eligible articles reporting on 6799 individuals were included out of 20 501 records. Nine predictors were identified: C9orf72 (OR 3.62, 95% CI 1.76 to 7.45), dysarthria (OR 2.25, 95% CI 1.20 to 4.22), family history of ALS (OR 1.76, 95% CI 1.18 to 2.61), predominant upper motor neuron (PUMN) phenotype (OR 1.73, 95% CI 1.09 to 2.73) and bulbar onset (OR 1.54, 95% CI 1.28 to 1.87) increased risk factors for cognitive impairment in ALS. ALS Functional Rating Scale-Revised scores, sex, age or education level were not significantly associated with cognitive impairment in ALS. In addition, C9orf72 (OR=5.94) and bulbar onset (OR=2.08) were strong predictors of ALS-frontotemporal dementia. Female sex conferred more susceptibility to executive cognitive impairment than male sex (OR=1.82).ConclusionsPatients with C9orf72 repeat expansion, dysarthria, family history of ALS, PUMN phenotype and bulbar onset had a high risk for cognitive impairment in ALS. These associations may contribute to understanding the heterogeneity of ALS.PROSPERO registration numberCRD42020201085.

Demographic and Clinical Profile of Vernal Keratoconjunctivitis in Teaching Hospital, Kurnool

2021 ◽  
Vol 8 (2) ◽  
pp. 976-980
Author(s):  
Radhika R ◽  
◽  
Pushpa Latha M ◽  
Keyword(s):  
Family History ◽  
Severe Disease ◽  
Signs And Symptoms ◽  
Clinical Profile ◽  
Vernal Keratoconjunctivitis ◽  
Female Ratio ◽  
Young Males ◽  
Male Female Ratio ◽  
History Of ◽  
Key Words Allergy

Introduction: To describe socio - demographic and clinical profile of patients with vernal keratoconjunctivitis (VKC) and to assess the compliance of patients to the treatment of vernal keratoconjunctivitis. Materials and methods: Prospective study of 100 patients with VKC was done. Purposive sampling of 100 Patients with signs and symptoms of VKC were taken, who satisfy inclusion and exclusion criteria. Treatment was given depending on grade of disease. Results: Out of 100 patients 66 were Males and 33 were Females. Mean age at presentation was 9.4 years and 2 patients presented at the age of 28 and 30 year and 60% patients from rural area, 40% from urban. Family history of allergies was noted in 7% patient. History of chronic perennial disease was seen in 57% patients. Mixed form of VKC was seen in 66%, limbal form in 18% and palpebral form in 16%. 47% had mild and 10% had severe disease. Conclusion: VKC is a bilateral disease affects most commonly young males between ages of 6 to 10 years. Male: female ratio of 2:1. Association of family history of allergic disorders are less. For persistent severe disease needs frequent follow-up. KEY WORDS: Allergy, Compliance, Papillae, and Vernal Keratoconjunctivitis.

scholarly journals Familial Tuberculosis Mimicking Advanced Ovarian Cancer

2009 ◽  
Vol 2009 ◽  
pp. 1-5 ◽  
Author(s):  
Fakhrolmolouk Yassaee ◽  
Farah Farzaneh
Keyword(s):  
Family History ◽  
Positive Family History ◽  
Advanced Ovarian Cancer ◽  
Signs And Symptoms ◽  
Rapid Diagnosis ◽  
Ovarian Malignancy ◽  
Laboratory Findings ◽  
Pulmonary Tb ◽  
History Of ◽  
Mini Laparotomy

Genital TB may present as on abdominopelvic mass mimicking ovarian malignancy because clinical and laboratory findings are similar. Family history is very important and should be considered for differential diagnosis. Three cases of genital TB with presentation of abdominopelvic masses and with no signs and symptoms of TB were presented. Two of them had positive family history of pulmonary TB. Tissue diagnosis was the best method for diagnosis of genital TB, but it should be reminded that if positive family history of TB was present, mini laparotomy should be done to take biopsy and to make rapid diagnosis before treatment.

scholarly journals Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND

2019 ◽  
Vol 91 (3) ◽  
pp. 245-253 ◽  
Author(s):  
Caroline A McHutchison ◽  
Danielle Jane Leighton ◽  
Andrew McIntosh ◽  
Elaine Cleary ◽  
Jon Warner ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Family History ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Frontotemporal Dementia ◽  
Mood Disorders ◽  
Behavioural Change ◽  
Neuropsychiatric Disorders ◽  
Neuropsychiatric Disorder ◽  
History Of

ObjectiveIn this population-based study, we aimed to determine whether neuropsychiatric history, medication or family history of neuropsychiatric disorders predicted cognitive and/or behavioural impairment in motor neuron disease (MND).MethodsPeople with MND (pwMND) on the Scottish Clinical, Audit, Research and Evaluation of MND (CARE-MND) register, diagnosed from January 2015 to January 2018, with cognitive and/or behavioural data measured using the Edinburgh Cognitive and Behavioural ALS Screen were included. Data were extracted on patient neuropsychiatric, medication and family history of neuropsychiatric disorders. We identified patients with cognitive impairment (motor neuron disease with cognitive impairment (MNDci)), behavioural impairment (motor neuron disease with behavioural impairment (MNDbi), both (motor neuron disease with cognitive and behavioural impairment (MNDcbi)) or motor neuron disease–frontotemporal dementia (MND-FTD).ResultsData were available for 305 pwMND (mean age at diagnosis=62.26 years, SD=11.40), of which 60 (19.7%) had a neuropsychiatric disorder. A family history of neuropsychiatric disorders was present in 36/231 (15.58%) of patients. Patient premorbid mood disorders were associated with increased apathy (OR=2.78, 95% CI 1.083 to 7.169). A family history of any neuropsychiatric disorder was associated with poorer visuospatial scores, MNDbi (OR=3.14, 95% CI 1.09 to 8.99) and MND-FTD (OR=5.08, 95% CI 1.26 to 20.40). A family history of mood disorders was associated with poorer overall cognition (exp(b)=0.725, p=0.026), language, verbal fluency and visuospatial scores, and MND-FTD (OR=7.57, 95% CI 1.55 to 46.87). A family history of neurotic disorders was associated with poorer language (exp(b)=0.362, p<0.001), visuospatial scores (exp(b)=0.625, p<0.009) and MND-FTD (OR=13.75, 95% CI 1.71 to 110.86).ConclusionNeuropsychiatric disorders in patients and their families are associated with cognitive and behavioural changes post-MND diagnosis, with many occurring independently of MND-FTD and C9orf72 status. These findings support an overlap between MND, frontotemporal dementia and neuropsychiatric disorders, particularly mood disorders.

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