Abstract: The invention relates to a method for diagnosing ASD in a subject, comprising a) providing a sample from the subject; b) measuring the level of at least one metabolic marker selected from the group consisting of ribitol, lyxonate, erythritol, ribose and urate in said sample; and c) diagnosing ASD if the level of the at least one metabolic marker is specifically different in comparison to a typically developing control.

Abstract: The present invention relates to protein kinase A (PKA) for use in diagnosing autism spectrum disorder (ASD) phenotype 1 in an ASD patient wherein PKA levels are measured in a sample of the patient and wherein ASD phenotype 1 is diagnosed if the measured levels are lower than PKA levels in an age and sex-matched control sample. Additionally. the present invention relates to PKA for use in monitoring variation in ASD severity in an ASD patient, wherein PKA levels are measured in a sample of the patient and an increase in ASD severity is characterized by a decrease of PKA levels compared to PKA levels measured in previous samples of the patient. The present invention also relates to PKA for use in monitoring efficacy of an ASD treatment in an ASD phenotype 1 patient, wherein PKA levels are measured in a sample of the patient and wherein a positive response to the ASD treatment is characterized by an increase of PKA levels in comparison to baseline PKA levels of the patient prior to treatment.

Abstract: The present invention relates to pharmaceutical compositions for the treatment of a subtype of autism spectrum disorder (ASD) patients. Likewise, the present invention relates to methods of diagnosing a subtype of ASD and methods for identifying patients responding a specific treatment of ASD.

Abstract: Systems and techniques can determine candidate treatments for individuals diagnosed with a biological condition. The biological condition can include a neurodevelopmental condition and the candidate treatments can include one or more therapeutics. In one or more implementations, data, such as genetic data, morphological data, and levels of analytes, can be used to group individuals that have been diagnosed with a neurodevelopmental condition based on behavioral classifications. Biological pathways that are disrupted by the neurodevelopmental condition can also be identified along with one or more genes of the biological pathways whose expression is impacted by the neurodevelopmental condition. Therapeutics can be identified to treat individuals diagnosed with the neurodevelopmental condition based on genetic profiles of the therapeutics and genetic profiles of the individuals in which the neurodevelopmental condition is present.

Abstract: The present invention relates to a pharmaceutical composition or a kit comprising, a first substance capable of raising intracellular cAMP levels, and a second substance capable of modulating intracellular calcium concentration. Likewise, the present invention relates to methods of treating patients suffering from autism spectrum disorder (ASD) phenotype 1 by administering an effective amount of a substance capable of raising intracellular cAMP levels and, optionally, an effective amount of a substance capable of modulating intracellular calcium concentration.

Abstract: The present invention is directed to a method of identifying autism spectrum disorder (ASD) phenotype 1 patients, wherein the method comprises: administering an Nrf2-activator to an ASD patient previously diagnosed with idiopathic ASD or a subject displaying clinical signs of ASD, and identifying the ASD patient as an ASD phenotype 1 patient if the patient shows a negative response after administration of the Nrf2-activator. Likewise, the present invention is directed to a method for classifying autism spectrum disorder (ASD) phenotype 1 patients, the method comprising: administering an Nrf2-activator to a subject, and observing if the subject shows a negative response after administration of the Nrf2-activator, in which the subject is a patient previously diagnosed with idiopathic ASD or a subject displaying clinical signs of ASD and in which the negative response supports classification of the subject as an ASD phenotype 1 patient.

Abstract: The present invention is directed to a method for differentiating between ASD phenotype 1, phenotype 2 and other ASD patients, wherein the method comprises: administering an Nrf2-activator to a subject, and identifying the subject as an ASD phenotype 1 patient if the subject shows a negative response, as a phenotype 2 patient if he shows a positive response and as another ASD patient if he does not show a positive nor a negative response, wherein the subject is a patient previously diagnosed with idiopathic ASD or a subject displaying clinical signs of ASD.

Abstract: The invention relates to a method of diagnosing a subtype of autism spectrum disorder (ASD), so called ASD Phenotype 1, by assessing the energy production capacity of patient specific cell lines in presence of various carbon sources of energy and metabolic factors or by assessing the changes in energy production capacity or lack thereof after administration of an Nrf2-inhibitor.

Abstract: The present invention is directed to a method of identifying autism spectrum disorder (ASD) phenotype 1 patients, wherein the method comprises: administering an Nrf2-activator to an ASD patient previously diagnosed with idiopathic ASD or a subject displaying clinical signs of ASD, and identifying the ASD patient as an ASD phenotype 1 patient if the patient shows a negative response after administration of the Nrf2-activator. Likewise, the present invention is directed to an Nrf2-activator for use in identifying autism spectrum disorder (ASD) phenotype 1 patients, wherein the Nrf2-activator is administered to a subject, wherein the subject is a patient previously diagnosed with idiopathic ASD or a subject displaying clinical signs of ASD and wherein an ASD phenotype 1 patient is identified by a negative response.

Abstract: The present invention is directed to a pharmaceutical composition comprising an Nrf2-inhibitor. Likewise, the present invention is directed to a pharmaceutical composition for use in the treatment of ASD in a patient, comprising: determining whether the patient suffers from ASD subtype 1 and administering a therapeutically effective amount of an Nrf2-inhibitor if the patients suffers from ASD subtype 1, wherein determining whether the patient suffers from ASD subtype 1 comprises administering the patient an Nrf2-activator and identifying the patient as suffering from ASD subtype 1 if he shows a negative response.

Abstract: The present invention is directed to a pharmaceutical composition comprising an Nrf2 inhibitor. Likewise, the present invention is directed to a pharmaceutical composition for use in the treatment of ASD in a patient, comprising: determining whether the patient suffers from ASD subtype 1 and administering a therapeutically effective amount of an Nrf-inhibitor if the patients suffers from ASD subtype 1, wherein determining whether the patient suffers from ASD subtype 1 comprises administering the patient an Nrf2-activator and identifying the patient as suffering from ASD subtype 1 if he shows a negative response.

Abstract: The present invention relates to a pharmaceutical composition or a kit comprising, a first substance capable of raising intracellular cAMP levels, and a second substance capable of modulating intracellular calcium concentration. Likewise, the present invention relates to methods of treating patients suffering from autism spectrum disorder (ASD) phenotype 1 by administering an effective amount of a substance capable of intracellular cAMP levels and, optionally, an effective amount of a substance capable of modulating intracellular calcium concentration.

Abstract: The present invention relates to a pharmaceutical composition or a kit comprising, a first substance capable of raising intracellular cAMP levels, and a second substance capable of modulating intracellular calcium concentration. Likewise, the present invention relates to methods of treating patients suffering from autism spectrum disorder (ASD) phenotype 1 by administering an effective amount of a substance capable of raising intracellular cAMP levels and, optionally, an effective amount of a substance capable of modulating intracellular calcium concentration.

Abstract: The present invention relates to a pharmaceutical composition or a kit comprising, a first substance capable of raising intracellular cAMP levels, and a second substance capable of modulating intracellular calcium concentration. Likewise, the present invention relates to methods of treating patients suffering from autism spectrum disorder (ASD) phenotype 1 by administering an effective amount of a substance capable of raising intracellular cAMP levels and, optionally, an effective amount of a substance capable of modulating intracellular calcium concentration.

Abstract: The present invention relates to protein kinase A (PKA) for use in diagnosing autism spectrum disorder (ASD) phenotype 1 in an ASD patient wherein PKA levels are measured in a sample of the patient and wherein ASD phenotype 1 is diagnosed if the measured levels are lower than PKA levels in an age and sex-matched control sample. Additionally, the present invention relates to PKA for use in monitoring variation in ASD severity in an ASD patient, wherein PKA levels are measured in a sample of the patient and an increase in ASD severity is characterized by a decrease of PKA levels compared to PKA levels measured in previous samples of the patient. The present invention also relates to PKA for use in monitoring efficacy of an ASD treatment in an ASD phenotype 1 patient, wherein PKA levels are measured in a sample of the patient and wherein a positive response to the ASD treatment is characterized by an increase of PKA levels in comparison to baseline PKA levels of the patient prior to treatment.

Abstract: The present invention is directed to a method for differentiating between ASD phenotype 1, phenotype 2 and other ASD patients, wherein the method comprises,: administering an Nrf2-activator to a subject, and identifying the subject as an ASD phenotype 1 patient if the subject shows a negative response, as a phenotype 2 patient if he shows a positive response and as another ASD patient if he does not show a positive nor a negative response, wherein the subject is a patient previously diagnosed with idiopathic ASD or a subject displaying clinical signs of ASD.

Abstract: The present invention relates to a pharmaceutical composition or a kit comprising, a first substance capable of raising intracellular cAMP levels, and a second substance capable of modulating intracellular calcium concentration. Likewise, the present invention relates to methods of treating patients suffering from autism spectrum disorder (ASD) phenotype 1 by administering an effective amount of a substance capable of raising intracellular cAMP levels and, optionally, an effective amount of a substance capable of modulating intracellular calcium concentration.

Abstract: The present invention is directed to a pharmaceutical composition comprising an Nrf2-inhibitor. Likewise, the present invention is directed to a pharmaceutical composition for use in the treatment of ASD in a patient, comprising: determining whether the patient suffers from ASD subtype 1 and administering a therapeutically effective amount of an Nrf2-inhibitor if the patients suffers from ASD subtype 1, wherein determining whether the patient suffers from ASD subtype 1 comprises administering the patient an Nrf2-activator and identifying the patient as suffering from ASD subtype 1 if he shows a negative response.

Abstract: The present invention is directed to a method of identifying autism spectrum disorder (ASD) phenotype 1 patients, wherein the method comprises: administering an Nrf2-activator to an ASD patient previously diagnosed with idiopathic ASD or a subject displaying clinical signs of ASD, and identifying the ASD patient as an ASD phenotype 1 patient if the patient shows a negative response after administration of the Nrf2-activator. Likewise, the present invention is directed to a method for classifying autism spectrum disorder (ASD) phenotype 1 patients, the method comprising: administering an Nrf2-activator to a subject, and observing if the subject shows a negative response after administration of the Nrf2-activator, in which the subject is a patient previously diagnosed with idiopathic ASD or a subject displaying clinical signs of ASD and in which the negative response supports classification of the subject as an ASD phenotype 1 patient.