IllnessAutism III, differential diagnosis

1. array, 2. FRAX, 3. genes: MECP2, PTEN recommended in ACMG guidelines
   NGS +

Autism spectrum disorders (ASD) are developmental disorders with particular social, communication and behavioural problems. Genetic alterations are risk factors for the development of ASD in addition to other mostly unknown causes. ASDs appear in early childhood, four times more frequently in boys than girls. Inheritance is generally multifactorial, i.e. several genes interact in a complex way with each other and with environmental influences. Inconspicuous genetic findings tend to be the rule.

Reference: https://www.awmf.org/leitlinien/detail/ll/028-018.html

• Sympt.: Abnormality cardiovascular system; abnormal of palate; Pseudohypoaldosteronism, IIE (CUL3)
• Autism spectrum disorder [ASD]
• Autism, susceptibility to, 18; Overgrowth with Intellectual disability (CHD8)
• Autism; Epileptic encephalopathy, early infantile, 27; Mental retardation, AD 6 (GRIN2B)
• Bainbridge-Ropers syndrome (ASXL3)
• Cerebral malformation disorders; Lissencephaly 2 (Norman-Roberts type] (RELN)
• Coffin-Siris syndrome (ARID1B)
• Combined immunodeficiencies with associated or syndromic features (KMT2A)
• Cong. heart disease + neurdev. disorder; Mental retardation, AD 50; Intellectual disability (NAA15)
• Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1 (CNTNAP2)
• Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3 (SCN2A)
• Global developmental delay; Intellectual disability; Seizures (CUL3)
• Helsmoortel-Van der Aa syndrome; Mental retardation AD, 28 (ADNP)
• Intellectual developmental disorder with autism + speech delay (TBR1)
• KMT5B syndrome; Mental retardation, AD 51 (KMT5B)
• MYT1L syndrome; obesity; Mental retardation, AD 39; Intell. disability (MYT1L)
• Mental retardation, AD 5; Epileptic encephalopathy (SYNGAP1)
• Mental retardation, autosomal dominant 52 (ASH1L)
• Microcephaly; Mental retardation, AD 7 (DYRK1A)
• Phelan-McDermid syndrome; Rett syndrome-like phenotype (SHANK3)
• Respiratory infections, short stature, hypertelorism, hairy elbows, dev. delay, ID (KMT2A)
• TRIP12-related intellectual disability with/-out ASD; Mental retardation, AD 49 (TRIP12)
• Tourette syndrome; Epileptic encephalopathy, childhood-onset (CHD2)
• VATER association, macrocephaly, ventriculomegaly; Susceptibility to many tumor types (PTEN)
• White-Sutton syndrome; Intellextual disability (POGZ)
• Wiedemann-Steiner syndrome with cong. immunodeficiency; Unclassified antibody deficiency (KMT2A)