How a family photo could soon diagnose some of the rarest genetic diseases

Many genetic conditions such as Down’s syndrome and Angelman syndrome are associated with changes in facial appearance, say the Oxford and Edinburgh researchers.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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ConclusionsBehaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Authors: Campero L Abstract Angelman syndrome (AS) is a rare neurogenetic disorder that results from an abnormality of the maternal chromosome 15. Clinical presentations for AS include developmental delays, seizure disorders, ataxia, truncal hypotonia, scoliosis, structural cardiac abnormalities, hyperactive tendon reflexes, absent speech, and craniofacial anomalies. Patients with AS also may have vagal hypertonia, which can result in refractory bradycardia in the perioperative setting. Mutations of chromosome 15 can lead to abnormalities in γ-aminobutyric acid A (GABAA) receptors, through which numerous anes...
Source: Journal of Studies on Alcohol and Drugs - Category: Addiction Tags: J Stud Alcohol Drugs Source Type: research
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Intervention:   Drug: Gaboxadol Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Intervention:   Drug: Gaboxadol Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Intervention:   Drug: Gaboxadol Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Interventions:   Drug: Gaboxadol;   Drug: Placebo Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Condition:   Primary Disease or Condition Being Studied: Angelman Syndrome (AS) Intervention:   Drug: Gaboxadol Sponsor:   Ovid Therapeutics Inc. Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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